Skip to content

We are currently in beta

Please enjoy the existing content while we continue to fix and enhance your experience.

We would love to receive any feedback or comments that you'd like to share.

You can contact us here

Journeys of Life StoryMD Health Communities

Why StoryMD
Our Story
Point of Care
Newsletter
Contact Us
Help Center

Privacy Policy
Terms of Service
Accessibility

Find us on facebook
Find us on instagram
Find us on linkedin
Find us on pinterest
Find us on twitter
Find us on youtube

© 2024 StoryMD Inc. All rights reserved.

Fanconi Anemia

Table of Contents

Fanconi Anemia

FA; Fanconi Hypoplastic Anemia; Fanconi Pancytopenia; Fanconi Panmyelopathy

Fanconi anemia (FA) is a type of aplastic anemia. It is a rare but serious blood disorder that prevents your bone marrow from making enough new blood cells for your body to work normally. FA leads to bone marrow failure, skeletal abnormalities, and an increased risk for cancer. Explore causes, symptoms, and treatments.

Aplastic Anemia-Bone Marrow

Image by doctorssupport.org

About

Aplastic Anemia-Bone Marrow

Image by doctorssupport.org

Aplastic Anemia-Bone Marrow

Image by doctorssupport.org

What Is Fanconi Anemia?

Fanconi anemia is a condition that affects many parts of the body. People with this condition may have bone marrow failure, physical abnormalities, organ defects, and an increased risk of certain cancers.

The major function of bone marrow is to produce new blood cells. These include red blood cells, which carry oxygen to the body's tissues; white blood cells, which fight infections; and platelets, which are necessary for normal blood clotting. Approximately 90 percent of people with Fanconi anemia have impaired bone marrow function that leads to a decrease in the production of all blood cells (aplastic anemia). Affected individuals experience extreme tiredness (fatigue) due to low numbers of red blood cells (anemia), frequent infections due to low numbers of white blood cells (neutropenia), and clotting problems due to low numbers of platelets (thrombocytopenia). People with Fanconi anemia may also develop myelodysplastic syndrome, a condition in which immature blood cells fail to develop normally.

More than half of people with Fanconi anemia have physical abnormalities. These abnormalities can involve irregular skin coloring such as unusually light-colored skin (hypopigmentation) or café-au-lait spots, which are flat patches on the skin that are darker than the surrounding area. Other possible symptoms of Fanconi anemia include malformed thumbs or forearms and other skeletal problems including short stature; malformed or absent kidneys and other defects of the urinary tract; gastrointestinal abnormalities; heart defects; eye abnormalities such as small or abnormally shaped eyes; and malformed ears and hearing loss. People with this condition may have abnormal genitalia or malformations of the reproductive system. As a result, most affected males and about half of affected females cannot have biological children (are infertile). Additional signs and symptoms can include abnormalities of the brain and spinal cord (central nervous system), including increased fluid in the center of the brain (hydrocephalus) or an unusually small head size (microcephaly).

Individuals with Fanconi anemia have an increased risk of developing a cancer of blood-forming cells in the bone marrow called acute myeloid leukemia (AML) or tumors of the head, neck, skin, gastrointestinal system, or genital tract. The likelihood of developing one of these cancers in people with Fanconi anemia is between 10 and 30 percent.

Source: MedlinePlus Genetics

Additional Materials (3)

Blood smear of a patient with Iron deficiency anemia

Blood smear of a patient with Iron deficiency anemia at 40x enhancement

Image by Roberto J. Galindo

Your Guide to Anemia

This booklet provides an overview of anemia for health consumers, covering causes, risk factors, diagnosis, and treatment. Also addresses major types of anemia: iron-deficiency, pernicious, aplastic, and hemolytic. Contains section on healthy lifestyle, working with your doctor, and talking with your family.

Document by NHLBI

Fanconi Anemia Mnemonic

Video by Medicosis Perfectionalis/YouTube

Blood smear of a patient with Iron deficiency anemia

Roberto J. Galindo

Your Guide to Anemia

NHLBI

6:09

Fanconi Anemia Mnemonic

Medicosis Perfectionalis/YouTube

Causes

Ashkenazi Jewish ancestry - A Jew Mom in the Orthodox Traditional Jewish Hasidic dress code of Modesty

Image by Agama Yahudi/Wikimedia

Ashkenazi Jewish ancestry - A Jew Mom in the Orthodox Traditional Jewish Hasidic dress code of Modesty

A Jewish Mother in the Orthodox Traditional Jewish Chassidic dress code of Modesty

Image by Agama Yahudi/Wikimedia

What Causes Fanconi Anemia?

Mutations in at least 15 genes can cause Fanconi anemia. Proteins produced from these genes are involved in a cell process known as the FA pathway. The FA pathway is turned on (activated) when the process of making new copies of DNA, called DNA replication, is blocked due to DNA damage. The FA pathway sends certain proteins to the area of damage, which trigger DNA repair so DNA replication can continue.

The FA pathway is particularly responsive to a certain type of DNA damage known as interstrand cross-links (ICLs). ICLs occur when two DNA building blocks (nucleotides) on opposite strands of DNA are abnormally attached or linked together, which stops the process of DNA replication. ICLs can be caused by a buildup of toxic substances produced in the body or by treatment with certain cancer therapy drugs.

Eight proteins associated with Fanconi anemia group together to form a complex known as the FA core complex. The FA core complex activates two proteins, called FANCD2 and FANCI. The activation of these two proteins brings DNA repair proteins to the area of the ICL so the cross-link can be removed and DNA replication can continue.

Eighty to 90 percent of cases of Fanconi anemia are due to mutations in one of three genes, FANCA, FANCC, and FANCG. These genes provide instructions for producing components of the FA core complex. Mutations in any of the many genes associated with the FA core complex will cause the complex to be nonfunctional and disrupt the entire FA pathway. As a result, DNA damage is not repaired efficiently and ICLs build up over time. The ICLs stall DNA replication, ultimately resulting in either abnormal cell death due to an inability make new DNA molecules or uncontrolled cell growth due to a lack of DNA repair processes. Cells that divide quickly, such as bone marrow cells and cells of the developing fetus, are particularly affected. The death of these cells results in the decrease in blood cells and the physical abnormalities characteristic of Fanconi anemia. When the buildup of errors in DNA leads to uncontrolled cell growth, affected individuals can develop acute myeloid leukemia or other cancers.

Source: MedlinePlus Genetics

Additional Materials (4)

Ashkenazi Synagogue

The view of Ashkenazi Synagogue in Tbilisi

Image by George Mel/Wikimedia

Fanconi Anemia - Clinical aspects

Video by FANCanemia/YouTube

What is Fanconi anemia (FA)?

Video by Fanconi Anemia Research Fund/YouTube

Cystinosis

The patient was a 4 1/2-year-old male who looked about 2 1/2 years old at his first visit. He was admitted to the hospital because of poor growth and polydipsia. The patient was admitted to the hospital in uremia and coma. An examination of the cornea showed the surface and the immediate subepithelial region to be studded with golden-brown, fine scintillating particles, uniformly distributed throughout the entire cornea, but possibly sparing the most peripheral zone ([1]). The stroma appeared to be clear, but the posterior surface of the cornea showed the same type of particles in the lower nasal quadrant, although sparser than was the case on the surface. There were apparently also some crystals in the conjunctiva. The tentative diagnosis was cystinosis or Fanconi's syndrome, but unlike the other cases reported, the crystals appeared to be at the anterior and posterior surfaces and not in the stroma. The patient was seen again at age 8 years old, when he was back in the hospital. The cornea still contained crystals ([2]). The only noteworthy event in the recent history was a nosebleed of 20 hours duration. His non-protein nitrogen was 140 and he appeared very pale, but he was lively and alert. He had a persistent anemia and potassium depletion. Presumably both the anemia and the hemorrhagic diathesis were attributed to uremia. The patient died in the hospital. Noteworthy was the fact that his three siblings all showed clear corneas without crystals. However, the youngest was age three months and when she was examined again at age two years, she had abundant crystals and nephropathic cystinosis.

Image by National Eye Institute

Ashkenazi Synagogue

George Mel/Wikimedia

3:37

Fanconi Anemia - Clinical aspects

FANCanemia/YouTube

1:37

What is Fanconi anemia (FA)?

Fanconi Anemia Research Fund/YouTube

Cystinosis

National Eye Institute

FANCA Gene

Ideogram of human chromosome 16

Image by Office of Biological and Environmental Research of the U.S. Department of Energy Office of Science, the Biological and Environmental Research Information System, Oak Ridge National Laboratory.

Ideogram of human chromosome 16

Selected genes, traits, and disorders associated with the chromosome listed; (blue and violet) regions reflecting the unique patterns of light and dark bands seen on human chromosomes stained to allow viewing through a light microscope; (red) the centromere, or constricted portion, of each chromosome; (yellow) chromosomal regions that vary in staining intensity and sometimes are called hererochromatin (meaning “different color”); (lines between yellow) variable regions, called stalks, that connect a very small chromosome arm (a “satellite”) to the chromosome.

Image by Office of Biological and Environmental Research of the U.S. Department of Energy Office of Science, the Biological and Environmental Research Information System, Oak Ridge National Laboratory.

FANCA Gene: FA Complementation Group A

Normal Function

The FANCA gene provides instructions for making a protein that is involved in a cell process known as the Fanconi anemia (FA) pathway. The FA pathway is turned on (activated) when the process of making new copies of DNA, called DNA replication, is blocked due to DNA damage. The FA pathway is particularly responsive to a certain type of DNA damage known as interstrand cross-links (ICLs). ICLs occur when two DNA building blocks (nucleotides) on opposite strands of DNA are abnormally attached or linked together, which stops the process of DNA replication. ICLs can be caused by a buildup of toxic substances produced in the body or by treatment with certain cancer therapy drugs.

The FANCA protein is one of a group of proteins known as the FA core complex. The FA core complex is composed of eight FA proteins (including FANCA) and two proteins called Fanconi anemia-associated proteins (FAAPs). This complex activates two proteins, called FANCD2 and FANCI, by attaching a single molecule called ubiquitin to each of them (a process called monoubiquitination). The activation of these two proteins, which attach (bind) together to form the ID protein complex, attract DNA repair proteins to the area of DNA damage so the error can be corrected and DNA replication can continue.

Health Conditions Related to Genetic Changes

Fanconi anemia

More than 450 mutations in the FANCA gene have been found to cause Fanconi anemia, a disorder characterized by a decrease in bone marrow function, an increased cancer risk, and physical abnormalities. Mutations in the FANCA gene are responsible for 60 to 70 percent of all cases of Fanconi anemia. These mutations change single DNA building blocks (nucleotides) or insert or delete pieces of DNA in the FANCA gene. Some mutations allow production of a FANCA protein that has some residual function; other mutations prevent the production of any FANCA protein. Mutations that prevent all protein production usually lead to a shortage of blood cells at an earlier age and increase the risk of developing cancer of the blood-forming cells (leukemia) as compared to mutations that allow for some FANCA protein production.

Mutations in the FANCA gene lead to a nonfunctional FA core complex, which disrupts the entire FA pathway. As a result, DNA damage is not repaired efficiently and ICLs build up over time. The ICLs stall DNA replication, ultimately resulting in either abnormal cell death due to an inability make new DNA molecules or uncontrolled cell growth due to a lack of DNA repair processes. Cells that divide quickly, such as bone marrow cells and cells of the developing fetus, are particularly affected. The death of these cells results in the decrease in blood cells and the physical abnormalities characteristic of Fanconi anemia. When the buildup of errors in DNA leads to uncontrolled cell growth, affected individuals can develop leukemia or other cancers.

Other Names for This Gene

FA
FAA
FACA
FANCA_HUMAN
Fanconi anemia complementation group A
Fanconi anemia, complementation group A

Genomic Location

The FANCA gene is found on chromosome 16.

Source: MedlinePlus Genetics

FANCC Gene

Ideogram of human chromosome 9

Image by Office of Biological and Environmental Research of the U.S. Department of Energy Office of Science, the Biological and Environmental Research Information System, Oak Ridge National Laboratory.

Ideogram of human chromosome 9

Selected genes, traits, and disorders associated with the chromosome listed; (blue and violet) regions reflecting the unique patterns of light and dark bands seen on human chromosomes stained to allow viewing through a light microscope; (red) the centromere, or constricted portion, of each chromosome; (yellow) chromosomal regions that vary in staining intensity and sometimes are called hererochromatin (meaning “different color”); (lines between yellow) variable regions, called stalks, that connect a very small chromosome arm (a “satellite”) to the chromosome.

Image by Office of Biological and Environmental Research of the U.S. Department of Energy Office of Science, the Biological and Environmental Research Information System, Oak Ridge National Laboratory.

FANCC Gene: FA Complementation Group C

Normal Function

The FANCC gene provides instructions for making a protein that is involved in a cell process known as the Fanconi anemia (FA) pathway. The FA pathway is turned on (activated) when the process of making new copies of DNA, called DNA replication, is blocked due to DNA damage. The FA pathway is particularly responsive to a certain type of DNA damage known as interstrand cross-links (ICLs). ICLs occur when two DNA building blocks (nucleotides) on opposite strands of DNA are abnormally attached or linked together, which stops the process of DNA replication. ICLs can be caused by a buildup of toxic substances produced in the body or by treatment with certain cancer therapy drugs.

The FANCC protein is one of a group of proteins known as the FA core complex. The FA core complex is composed of eight FA proteins (including FANCC) and two proteins called Fanconi anemia-associated proteins (FAAPs). This complex activates two proteins, called FANCD2 and FANCI, by attaching a single molecule called ubiquitin to each of them (a process called monoubiquitination). The activation of these two proteins, which attach (bind) together to form the ID protein complex, attract DNA repair proteins to the area of DNA damage so the error can be corrected and DNA replication can continue.

Health Conditions Related to Genetic Changes

Fanconi anemia

At least 50 mutations in the FANCC gene have been found to cause Fanconi anemia, a disorder characterized by a decrease in bone marrow function, an increased cancer risk, and physical abnormalities. Mutations in the FANCC gene are responsible for about 15 percent of all cases of Fanconi anemia. A particular mutation in the FANCC gene has been found in people with Central and Eastern European (Ashkenazi) Jewish background. This mutation (written as 456+4A>T) disrupts the way the gene's instructions are used to make the protein. Individuals with this mutation tend to have more severe signs and symptoms than people who have some of the other mutations in the FANCC gene.

Most mutations in the FANCC gene that cause Fanconi anemia lead to absent or reduced protein function. As a result, the FA core complex cannot function and the entire FA pathway is disrupted. Due to the disrupted pathway, DNA damage is not repaired efficiently and ICLs build up over time. The ICLs stall DNA replication, ultimately resulting in either abnormal cell death due to an inability make new DNA molecules or uncontrolled cell growth due to a lack of DNA repair processes. Cells that divide quickly, such as bone marrow cells and cells of the developing fetus, are particularly affected. The death of these cells results in the decrease in blood cells and the physical abnormalities characteristic of Fanconi anemia. When the buildup of errors in DNA leads to uncontrolled cell growth, affected individuals can develop leukemia or other cancers.

Other Names for This Gene

FAC
FACC
FANCC_HUMAN
Fanconi anemia complementation group C
Fanconi anemia, complementation group C

Genomic Location

The FANCC gene is found on chromosome 9.

Source: MedlinePlus Genetics

FANCG Gene

Ideogram of human chromosome 9

Image by Office of Biological and Environmental Research of the U.S. Department of Energy Office of Science, the Biological and Environmental Research Information System, Oak Ridge National Laboratory.

Ideogram of human chromosome 9

Selected genes, traits, and disorders associated with the chromosome listed; (blue and violet) regions reflecting the unique patterns of light and dark bands seen on human chromosomes stained to allow viewing through a light microscope; (red) the centromere, or constricted portion, of each chromosome; (yellow) chromosomal regions that vary in staining intensity and sometimes are called hererochromatin (meaning “different color”); (lines between yellow) variable regions, called stalks, that connect a very small chromosome arm (a “satellite”) to the chromosome.

Image by Office of Biological and Environmental Research of the U.S. Department of Energy Office of Science, the Biological and Environmental Research Information System, Oak Ridge National Laboratory.

FANCG Gene: FA Complementation Group G

Normal Function

The FANCG gene provides instructions for making a protein that is involved in a cell process known as the Fanconi anemia (FA) pathway. The FA pathway is turned on (activated) when the process of making new copies of DNA, called DNA replication, is blocked due to DNA damage. The FA pathway is particularly responsive to a certain type of DNA damage known as interstrand cross-links (ICLs). ICLs occur when two DNA building blocks (nucleotides) on opposite strands of DNA are abnormally attached or linked together, which stops the process of DNA replication. ICLs can be caused by a buildup of toxic substances produced in the body or by treatment with certain cancer therapy drugs.

The FANCG protein is one of a group of proteins known as the FA core complex. The FA core complex is composed of eight FA proteins (including FANCG) and two proteins called Fanconi anemia-associated proteins (FAAPs). This complex activates two proteins, called FANCD2 and FANCI, by attaching a single molecule called ubiquitin to each of them (a process called monoubiquitination). The activation of these two proteins, which attach (bind) together to form the ID protein complex, attracts DNA repair proteins to the area of DNA damage so the error can be corrected and DNA replication can continue.

Health Conditions Related to Genetic Changes

Fanconi anemia

More than 50 mutations in the FANCG gene have been found to cause Fanconi anemia, a disorder characterized by a decrease in bone marrow function, an increased cancer risk, and physical abnormalities. About 10 percent of all cases of Fanconi anemia are caused by mutations in the FANCG gene. When Fanconi anemia results from mutations in this gene, it is often associated with a more severe shortage of blood cells than when the condition is caused by mutations in other genes.

Most mutations in the FANCG gene that cause Fanconi anemia lead to absent or reduced protein function. Individuals who have mutations that lead to no protein production typically have more severe signs or symptoms than people who have mutations that allow for some FANCG protein production. Due to a decrease in FANCG protein function, the FA core complex cannot function and the entire FA pathway is disrupted. As a result, DNA damage is not repaired efficiently and ICLs build up over time. The ICLs stall DNA replication, ultimately resulting in either abnormal cell death due to an inability make new DNA molecules or uncontrolled cell growth due to a lack of DNA repair processes. Cells that divide quickly, such as bone marrow cells and cells of the developing fetus, are particularly affected. The death of these cells results in the decrease in blood cells and the physical abnormalities characteristic of Fanconi anemia. When the buildup of errors in DNA leads to uncontrolled cell growth, affected individuals can develop leukemia or other cancers.

Other Names for This Gene

FAG
FANCG_HUMAN
Fanconi anemia complementation group G
Fanconi anemia, complementation group G
XRCC9

Genomic Location

The FANCG gene is found on chromosome 9.

Source: MedlinePlus Genetics

Inheritance

Newborn autosomal recessive pattern of inheritance

Image by Thomas Shafee and TheVisualMD

Newborn autosomal recessive pattern of inheritance

Newborn autosomal recessive pattern of inheritance

Image by Thomas Shafee and TheVisualMD

How Is Fanconi Anemia Inherited?

Fanconi anemia is most often inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Very rarely, this condition is inherited in an X-linked recessive pattern. The gene associated with X-linked recessive Fanconi anemia is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.

Source: MedlinePlus Genetics

Symptoms

Red Blood Cells, Blood Smear

Image by TheVisualMD

Red Blood Cells, Blood Smear

Individual blood cells were first detected and described in 17th century. Later, red blood cells were counted manually from a blood smear, a thin film of blood prepared on a glass slide and examined under a microscope. Blood analysis is now automated, though blood smears are still used to detect visible abnormalities. There are normally between 4.2-5.8 million red blood cells per microliter (about a drop), which means there are 20-30 trillion red blood cells circulating through the body of an adult.

Image by TheVisualMD

What Are the Signs and Symptoms of Fanconi Anemia?

Major Signs and Symptoms

Your doctor may suspect you or your child has Fanconi anemia (FA) if you have signs and symptoms of:

Anemia
Bone marrow failure
Birth defects
Developmental or eating problems

FA is an inherited disorder—that is, it's passed from parents to children through genes. If a child has FA, his or her brothers and sisters also should be tested for the disorder.

Anemia

The most common symptom of all types of anemia is fatigue (tiredness). Fatigue occurs because your body doesn't have enough red blood cells to carry oxygen to its various parts. If you have anemia, you may not have the energy to do normal activities.

A low red blood cell count also can cause shortness of breath, dizziness, headaches, coldness in your hands and feet, pale skin, and chest pain.

Bone Marrow Failure

When your bone marrow fails, it can't make enough red blood cells, white blood cells, and platelets. This can cause many problems that have various signs and symptoms.

With too few red blood cells, you can develop anemia. In FA, the size of your red blood cells also can be much larger than normal. This makes it harder for the cells to work well.

With too few white blood cells, you're at risk for infections. Infections also may last longer and be more serious than normal.

With too few platelets, you may bleed and bruise easily, suffer from internal bleeding, or have petechiae (pe-TEE-kee-ay). Petechiae are tiny red or purple spots on the skin. Bleeding in small blood vessels just below your skin causes these spots.

In some people who have FA, the bone marrow makes a lot of harmful, immature white blood cells called blasts. Blasts don't work like normal blood cells. As they build up, they prevent the bone marrow from making enough normal blood cells.

A large number of blasts in the bone marrow can lead to a type of blood cancer called acute myeloid leukemia (AML).

Birth Defects

Many birth defects can be signs of FA. These include:

Bone or skeletal defects. FA can cause missing, oddly shaped, or three or more thumbs. Arm bones, hips, legs, hands, and toes may not form fully or normally. People who have FA may have a curved spine, a condition called scoliosis (sco-le-O-sis).
Eye and ear defects. The eyes, eyelids, and ears may not have a normal shape. Children who have FA also might be born deaf.
Skin discoloration. This includes coffee-colored areas or odd-looking patches of lighter skin.
Kidney problems. A child who has FA might be born with a missing kidney or kidneys that aren't shaped normally.
Congenital heart defects. The most common congenital heart defect linked to FA is a ventricular septal defect (VSD). A VSD is a hole or defect in the lower part of the wall that separates the heart’s left and right chambers.

Developmental Problems

Other signs and symptoms of FA are related to physical and mental development. They include:

Low birth weight
Poor appetite
Delayed growth
Below-average height
Small head size
Mental retardation or learning disabilities

Signs and Symptoms of Fanconi Anemia in Adults

Some signs and symptoms of FA may develop as you or your child gets older. Women who have FA may have some or all of the following:

Sex organs that are less developed than normal
Menstruating later than women who don't have FA
Starting menopause earlier than women who don't have FA
Problems getting pregnant and carrying a pregnancy to full term

Men who have FA may have sex organs that are less developed than normal. They also may be less fertile than men who don't have the disease.

Source: National Heart, Lung, and Blood Institute (NHLBI)

Diagnosis

Inheritance and Family Medical History

Image by mcmurryjulie

Inheritance and Family Medical History

Family History

Image by mcmurryjulie

How Is Fanconi Anemia Diagnosed?

People who have Fanconi anemia (FA) are born with the disorder. They may or may not show signs or symptoms of it at birth. For this reason, FA isn't always diagnosed when a person is born. In fact, most people who have the disorder are diagnosed between the ages of 2 and 15 years.

The tests used to diagnose FA depend on a person's age and symptoms. In all cases, medical and family histories are an important part of diagnosing FA. However, because FA has many of the same signs and symptoms as other diseases, only genetic testing can confirm its diagnosis.

Specialists Involved

A geneticist is a doctor or scientist who studies how genes work and how diseases and traits are passed from parents to children through genes.

Geneticists do genetic testing for FA. They also can provide counseling about how FA is inherited and the types of prenatal (before birth) testing used to diagnose it.

An obstetrician may detect birth defects linked to FA before your child is born. An obstetrician is a doctor who specializes in providing care for pregnant women.

After your child is born, a pediatrician also can help find out whether your child has FA. A pediatrician is a doctor who specializes in treating children and teens.

A hematologist (blood disease specialist) also may help diagnose FA.

Family and Medical Histories

FA is an inherited disease. Some parents are aware that their family has a medical history of FA, even if they don't have the disease.

Other parents, especially if they're FA carriers, may not be aware of a family history of FA. Many parents may not know that FA can be passed from parents to children.

Knowing your family medical history can help your doctor diagnose whether you or your child has FA or another condition with similar symptoms.

If your doctor thinks that you, your siblings, or your children have FA, he or she may ask you detailed questions about:

Any personal or family history of anemia
Any surgeries you’ve had related to the digestive system
Any personal or family history of immune disorders
Your appetite, eating habits, and any medicines you take

If you know your family has a history of FA, or if your answers to your doctor's questions suggest a possible diagnosis of FA, your doctor will recommend further testing.

Diagnostic Tests and Procedures

The signs and symptoms of FA aren't unique to the disease. They're also linked to many other diseases and conditions, such as aplastic anemia. For this reason, genetic testing is needed to confirm a diagnosis of FA. Genetic tests for FA include the following.

Chromosome Breakage Test

This is the most common test for FA. It's available only in special laboratories (labs). It shows whether your chromosomes (long chains of genes) break more easily than normal.

Skin cells sometimes are used for the test. Usually, though, a small amount of blood is taken from a vein in your arm using a needle. A technician combines some of the blood cells with certain chemicals.

If you have FA, the chromosomes in your blood sample break and rearrange when mixed with the test chemicals. This doesn't happen in the cells of people who don't have FA.

Cytometric Flow Analysis

Cytometric flow analysis, or CFA, is done in a lab. This test examines how chemicals affect your chromosomes as your cells grow and divide. Skin cells are used for this test.

A technician mixes the skin cells with chemicals that can cause the chromosomes in the cells to act abnormally. If you have FA, your cells are much more sensitive to these chemicals.

The chromosomes in your skin cells will break at a high rate during the test. This doesn't happen in the cells of people who don't have FA.

Mutation Screening

A mutation is an abnormal change in a gene or genes. Geneticists and other specialists can examine your genes, usually using a sample of your skin cells. With special equipment and lab processes, they can look for gene mutations that are linked to FA.

Diagnosing Different Age Groups

Before Birth (Prenatal)

If your family has a history of FA and you get pregnant, your doctor may want to test you or your fetus for FA.

Two tests can be used to diagnose FA in a developing fetus: amniocentesis (AM-ne-o-sen-TE-sis) and chorionic villus (ko-re-ON-ik VIL-us) sampling (CVS). Both tests are done in a doctor's office or hospital.

Amniocentesis is done 15 to 18 weeks after a pregnant woman's last period. A doctor uses a needle to remove a small amount of fluid from the sac around the fetus. A technician tests chromosomes (chains of genes) from the fluid sample to see whether they have faulty genes associated with FA.

CVS is done 10 to 12 weeks after a pregnant woman's last period. A doctor inserts a thin tube through the vagina and cervix to the placenta (the temporary organ that connects the fetus to the mother).

The doctor removes a tissue sample from the placenta using gentle suction. The tissue sample is sent to a lab to be tested for genetic defects associated with FA.

At Birth

Three out of four people who inherit FA are born with birth defects. If your baby is born with certain birth defects, your doctor may recommend genetic testing to confirm a diagnosis of FA.

Childhood and Later

Some people who have FA are not born with birth defects. Doctors may not diagnose them with the disorder until signs of bone marrow failure or cancer occur. This usually happens within the first 10 years of life.

Signs of bone marrow failure most often begin between the ages of 3 and 12 years, with 7 to 8 years as the most common ages. However, 10 percent of children who have FA aren't diagnosed until after 16 years of age.

If your bone marrow is failing, you may have signs of aplastic anemia. FA is one type of aplastic anemia.

In aplastic anemia, your bone marrow stops making or doesn't make enough of all three types of blood cells: red blood cells, white blood cells, and platelets.

Aplastic anemia can be inherited or acquired after birth through exposure to chemicals, radiation, or medicines.

Doctors diagnose aplastic anemia using:

Family and medical histories and a physical exam.
A complete blood count (CBC) to check the number, size, and condition of your red blood cells. The CBC also checks numbers of white blood cells and platelets.
A reticulocyte (re-TIK-u-lo-site) count. This test counts the number of new red blood cells in your blood to see whether your bone marrow is making red blood cells at the proper rate.
Bone marrow tests. For a bone marrow aspiration, a small amount of liquid bone marrow is removed and tested to see whether it's making enough blood cells. For a bone marrow biopsy, a small amount of bone marrow tissue is removed and tested to see whether it's making enough blood cells.

If you or your child is diagnosed with aplastic anemia, your doctor will want to find the cause. If your doctor suspects you have FA, he or she may recommend genetic testing.

Source: National Heart, Lung, and Blood Institute (NHLBI)

Additional Materials (4)

Screenshot of the My Family Health Portrait website

Screenshot of the My Family Health Portrait website Knowing your family’s health history can help your health care team provide better care for you.

Image by NIH News in Health

Fanconi Anemia - Genetic diagnosis

Video by FANCanemia/YouTube

Fanconi Anemia - Introduction

Video by FANCanemia/YouTube

How Is Fanconi Anemia Diagnosed?

Flow cytometry - Fluorescence Assisted Cell Sorting (FACS) showing positive cell selection.

Image by SariSabban

Screenshot of the My Family Health Portrait website

NIH News in Health

3:40

Fanconi Anemia - Genetic diagnosis

FANCanemia/YouTube

4:56

Fanconi Anemia - Introduction

FANCanemia/YouTube

How Is Fanconi Anemia Diagnosed?

SariSabban

Chromosome Breakage Test

Chromosome Breakage Test

Also called: Chromosome Instability Syndrome Analysis, Chromosome Breakage Study, Fanconi Anemia Testing

The test detects defective DNA repair in response to certain test chemicals. It shows whether your chromosomes (long chains of genes) break more easily than normal. This test is usually done to confirm or rule out a diagnosis of Fanconi anemia (FA).

Chromosome Breakage Test

Also called: Chromosome Instability Syndrome Analysis, Chromosome Breakage Study, Fanconi Anemia Testing

The test detects defective DNA repair in response to certain test chemicals. It shows whether your chromosomes (long chains of genes) break more easily than normal. This test is usually done to confirm or rule out a diagnosis of Fanconi anemia (FA).

{"label":"Chromosome breakage reference range","scale":"lin","step":0.25,"hideunits":true,"items":[{"flag":"negative","label":{"short":"Negative","long":"Negative","orientation":"horizontal"},"values":{"min":0,"max":1},"text":"A negative breakage study rules out Fanconi anemia. However, if mosaicism is suspected, further testing may be necessary.","conditions":[]},{"flag":"positive","label":{"short":"Positive","long":"Positive","orientation":"horizontal"},"values":{"min":1,"max":2},"text":"A positive breakage study confirms the diagnosis of Fanconi anemia.","conditions":["Fanconi anemia"]}],"value":0.5,"disclaimer":"Normal reference ranges can vary depending on the laboratory and the method used for testing. You must use the range supplied by the laboratory that performed your test to evaluate whether your results are \"within normal limits.\""}[{"negative":0},{"positive":0}]
Use the slider below to see how your results affect your health.
Your result is Negative.
A negative breakage study rules out Fanconi anemia. However, if mosaicism is suspected, further testing may be necessary.
Related conditions
1. How Is Fanconi Anemia Diagnosed? | NHLBI, NIH [accessed on Jan 28, 2024]
2. Comprehensive Fanconi Anemia Testing | Cytogenetics Laboratory [accessed on Jan 28, 2024]
3. Chromosome Breakage Studies | Synnovis [accessed on Jan 28, 2024]

Additional Materials (2)

Fanconi Anemia - Genetic diagnosis

Video by FANCanemia/YouTube

chromosome breakage and instability syndromes

Video by Dr. Victoria and Dr. Jesper/YouTube

3:40

Fanconi Anemia - Genetic diagnosis

FANCanemia/YouTube

10:49

chromosome breakage and instability syndromes

Dr. Victoria and Dr. Jesper/YouTube

Cytometric Flow Analysis

Cytogenetic Analysis

Also called: Cytogenetic Testing, Cytogenetics, Cytometric Flow Analysis

Cytogenetic analysis is a test in which the chromosomes of cells in a sample of blood or bone marrow are counted and checked for any changes, such as broken, missing, rearranged, or extra chromosomes. The test is used to help diagnose a genetic disorder or certain types of cancer, plan and monitor treatment.

Cytogenetic Analysis

Also called: Cytogenetic Testing, Cytogenetics, Cytometric Flow Analysis

Cytogenetic analysis is a test in which the chromosomes of cells in a sample of blood or bone marrow are counted and checked for any changes, such as broken, missing, rearranged, or extra chromosomes. The test is used to help diagnose a genetic disorder or certain types of cancer, plan and monitor treatment.

1. PDQ® Adult Treatment Editorial Board. PDQ Acute Myeloid Leukemia Treatment. Bethesda, MD: National Cancer Institute. [accessed on Feb 18, 2022]
2. 510999: Chromosome Analysis, Leukemia/Lymphoma | Labcorp [accessed on Feb 18, 2022]
3. Ozkan E, Lacerda MP. Genetics, Cytogenetic Testing And Conventional Karyotype. [Updated 2021 Aug 11]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022 Jan-. [accessed on Feb 18, 2022]
4. Cytogenetic Analysis | NewsMedical [accessed on Feb 18, 2022]

Additional Materials (1)

Genomic Education Module (GEM): Cytogenetic Tests

Video by UC Davis MIND Institute/YouTube

3:43

Genomic Education Module (GEM): Cytogenetic Tests

UC Davis MIND Institute/YouTube

Genetic Testing

Genetic Testing

Also called: DNA Testing, Mutation Screening, Genetic Test

Genetic testing is a type of test that analyze your cells or tissue to look for any changes in your DNA. Genetic tests may be used to identify increased risks of health problems, to choose treatments, or to assess responses to treatments.

Genetic Testing

Also called: DNA Testing, Mutation Screening, Genetic Test

Genetic testing is a type of test that analyze your cells or tissue to look for any changes in your DNA. Genetic tests may be used to identify increased risks of health problems, to choose treatments, or to assess responses to treatments.

{"label":"Genetic Test Reference Range","scale":"lin","step":0.25,"hideunits":true,"items":[{"flag":"negative","label":{"short":"Negative","long":"Negative","orientation":"horizontal"},"values":{"min":0,"max":1},"text":"A negative result means that the test did not find a genetic change known to cause disease. ","conditions":[]},{"flag":"borderline","label":{"short":"Uncertain","long":"Uncertain","orientation":"horizontal"},"values":{"min":1,"max":2},"text":"An uncertain result means that a variant of unknown or uncertain significance means there isn\u2019t enough information about that genetic change to determine whether it is benign (normal) or pathogenic (disease causing).","conditions":[]},{"flag":"positive","label":{"short":"Positive","long":"Positive","orientation":"horizontal"},"values":{"min":2,"max":3},"text":"A positive result means that the test found a genetic change known to cause disease.","conditions":[]}],"value":0.5}[{"negative":0},{"borderline":0},{"positive":0}]
Use the slider below to see how your results affect your health.
Your result is Negative.
A negative result means that the test did not find a genetic change known to cause disease.
Related conditions
Genetic testing may be done for many different reasons, including to:
- Find genetic diseases in unborn babies. This is one type of prenatal testing.
- Screen newborn babies for certain treatable conditions
- Lower the risk of genetic diseases in embryos that were created using assisted reproductive technology
- Find out if you carry a gene for a certain disease that could be passed on to your children. This is called carrier testing.
- See whether you are at increased risk of developing a specific disease. This may be done for a disease that runs in your family.
- Diagnose certain diseases
- Identify genetic changes that may be causing or contributing to a disease that you were already diagnosed with
- Figure out how severe a disease is
- Help guide your doctor in deciding the best medicine and dosage for you. This is called pharmacogenomic testing.
There are no known risks to having a saliva test. There is very little risk to having a blood test. You may have slight pain or bruising at the spot where the needle was put in, but most symptoms go away quickly.
The physical risks of the different types of genetic testing are small. But there can be emotional, social, or financial drawbacks:
- Depending on the results, you may feel angry, depressed, anxious, or guilty. This can be especially true if you are diagnosed with a disease that does not have effective treatments.
- You may be worried about genetic discrimination in employment or insurance
- Genetic testing may give you limited information about a genetic disease. For example, it cannot tell you whether you will have symptoms, how severe a disease might be, or whether a disease will get worse over time.
- Some genetic tests are expensive, and health insurance might only cover part of the cost. Or they may not cover it at all.
- Positive – the test found a genetic change known to cause disease.
- Negative – the test did not find a genetic change known to cause disease. Sometimes a negative result occurs when the wrong test was ordered or there isn’t a genetic cause for that person’s symptoms. A “true negative” is when there is a known genetic change in the family and the person tested did not inherit it. If your test results are negative and there is no known genetic change in your family, a negative test result may not give you a definite answer. This is because you might not have been tested for the genetic change that runs in your family.
- Uncertain – a variant of unknown or uncertain significance means there isn’t enough information about that genetic change to determine whether it is benign (normal) or pathogenic (disease causing).
1. Genetic Testing | CDC. Sep 23, 2022 [accessed on Feb 23, 2022]
2. Genetic Testing: MedlinePlus. National Library of Medicine. Jun 11, 2021 [accessed on Feb 23, 2022]
3. What is genetic testing?: MedlinePlus Genetics [accessed on Feb 23, 2022]
4. Genetic Testing FAQ. Genome.gov [accessed on Feb 23, 2022]
5. Genetic testing and your cancer risk: MedlinePlus Medical Encyclopedia [accessed on Feb 23, 2022]

Normal reference ranges can vary depending on the laboratory and the method used for testing. You must use the range supplied by the laboratory that performed your test to evaluate whether your results are "within normal limits."

Additional Materials (21)

Genetic testing

Genetic testing fact sheet

Image by genome.gov

Genetic testing

Genetic testing existed before the Human Genome Project and the list of diseases that we can already screen for may be longer than you think.

Image by TheVisualMD

Genes and Genetic Defects

Genetic testing isn't new. In the 1960s, doctors were able to test newborn babies for certain rare single-gene disorders, such as phenylketonuria (PKU), a rare metabolic disease that causes mental retardation. (PKU can be prevented with a special diet if it's detected early, which was why it was critical to test newborns.)

Image by TheVisualMD

Mapping Your Future: Screening for Disease Risk

Image by TheVisualMD

Each person with Down syndrome has different talents and the ability to thrive.

Down syndrome is a lifelong condition. Services early in life will often help babies and children with Down syndrome to improve their physical and intellectual abilities. Most of these services focus on helping children with Down syndrome develop to their full potential. These services include speech, occupational, and physical therapy, and they are typically offered through early intervention programs in each state. Children with Down syndrome may also need extra help or attention in school, although many children are included in regular classes.

Image by CDC

genetic analysis

Biotechnology - DNA analysis and treatment

Image by OpenClipart-Vectors/Pixabay

Family history (medicine)

An extended family in Spain

Image by Ojedamd

Biotechnology

This diagram shows the basic method used for extraction of DNA.

Image by CNX Openstax

Genetic Counselor at Sanford Health Explains the Benefits to Genetic Testing

Video by Sanford Health/YouTube

What Is A Genetic Counselor & The Importance of Genetic Counselling | Ambry Genetics

Video by Ambry Genetics/YouTube

How Does The Genetic Testing Process Work? Genetic Testing FAQ | Ambry Genetics

Video by Ambry Genetics/YouTube

Should You Get Genetic Testing During Your Pregnancy?

Video by St. Louis Children's Hospital/YouTube

Debating Embryonic Genetic Testing -- The Doctors

Video by The Doctors/YouTube

Genetic Testing for Cancer — AMITA Health | NBC Chicago Ask the Doc

Video by AMITA Health/YouTube

MedGenome BRCA - Breast Cancer Genetic Testing

Video by MedGenome/YouTube

Genetic Testing for Hereditary Forms of Kidney Cancer - Brian Shuch, MD

Video by UCLA Health/YouTube

Do I need Genetic Testing for Ichthyosis?

Video by foundation for ichthyosis/YouTube

What Is Genetic Testing? Understanding the Process and Its Results

Video by uvahealth/YouTube

How to Understand Your Genetic Testing Results

Video by Breast Cancer Answers®/YouTube

Genetic Testing 101 for People with Rare Diseases

Video by National Organization for Rare Disorders (NORD)/YouTube

What's the difference between genetic and genomic testing?

Video by Cancer Treatment Centers of America - CTCA/YouTube

Genetic testing

genome.gov

Genetic testing

TheVisualMD

Genes and Genetic Defects

TheVisualMD

Mapping Your Future: Screening for Disease Risk

TheVisualMD

Each person with Down syndrome has different talents and the ability to thrive.

CDC

genetic analysis

OpenClipart-Vectors/Pixabay

Family history (medicine)

Ojedamd

Biotechnology

CNX Openstax

1:57

Genetic Counselor at Sanford Health Explains the Benefits to Genetic Testing

Sanford Health/YouTube

1:06

What Is A Genetic Counselor & The Importance of Genetic Counselling | Ambry Genetics

Ambry Genetics/YouTube

0:45

How Does The Genetic Testing Process Work? Genetic Testing FAQ | Ambry Genetics

Ambry Genetics/YouTube

3:04

Should You Get Genetic Testing During Your Pregnancy?

St. Louis Children's Hospital/YouTube

4:40

Debating Embryonic Genetic Testing -- The Doctors

The Doctors/YouTube

1:31

Genetic Testing for Cancer — AMITA Health | NBC Chicago Ask the Doc

AMITA Health/YouTube

2:10

MedGenome BRCA - Breast Cancer Genetic Testing

MedGenome/YouTube

1:37

Genetic Testing for Hereditary Forms of Kidney Cancer - Brian Shuch, MD

UCLA Health/YouTube

1:43

Do I need Genetic Testing for Ichthyosis?

foundation for ichthyosis/YouTube

2:01

What Is Genetic Testing? Understanding the Process and Its Results

uvahealth/YouTube

3:58

How to Understand Your Genetic Testing Results

Breast Cancer Answers®/YouTube

1:00:31

Genetic Testing 101 for People with Rare Diseases

National Organization for Rare Disorders (NORD)/YouTube

2:05

What's the difference between genetic and genomic testing?

Cancer Treatment Centers of America - CTCA/YouTube

Newborn Screening Tests

Newborn Blood Spot Screening

Also called: Newborn Blood Spot Test, NBS, Neonatal Heel Prick Test

Right after birth, babies need many important tests and procedures to ensure their health. Newborn screening detects disabling or possibly fatal conditions early enough so that treatments can reduce disability or death from that condition. The screening generally includes a variety of blood tests and a hearing test.

Newborn Blood Spot Screening

Also called: Newborn Blood Spot Test, NBS, Neonatal Heel Prick Test

Right after birth, babies need many important tests and procedures to ensure their health. Newborn screening detects disabling or possibly fatal conditions early enough so that treatments can reduce disability or death from that condition. The screening generally includes a variety of blood tests and a hearing test.

{"label":"Blood spot screening reference range","scale":"lin","step":0.5,"hideunits":true,"items":[{"flag":"normal","label":{"short":"In-range (normal)","long":"In-range (normal)","orientation":"horizontal"},"values":{"min":0,"max":1},"text":"An in-range (also called negative, normal, or low risk) result means that your baby probably does not have a condition detected by blood spot screening. Babies with in-range results do not need more testing.","conditions":[]},{"flag":"borderline","label":{"short":"Borderline","long":"Borderline","orientation":"horizontal"},"values":{"min":1,"max":2},"text":"A borderline (also called inconclusive or medium risk) result means that your baby\u2019s screening results fall somewhere between an in-range and out-of-range result. Babies with borderline results need more screening or testing.","conditions":[]},{"flag":"abnormal","label":{"short":"Out-of-range (abnormal)","long":"Out-of-range (abnormal)","orientation":"horizontal"},"values":{"min":2,"max":3},"text":"An out-of-range (also called positive, abnormal, or high risk) result means that your baby might have the condition detected by the screening test. Babies with out-of-range results need more testing.","conditions":["Disorders Detected by Newborn Screening"]}],"value":0.5,"disclaimer":"Normal reference ranges can vary depending on the laboratory and the method used for testing. You must use the range supplied by the laboratory that performed your test to evaluate whether your results are \"within normal limits.\""}[{"normal":0},{"borderline":0},{"abnormal":0}]
Use the slider below to see how your results affect your health.
Your result is In-range (normal).
An in-range (also called negative, normal, or low risk) result means that your baby probably does not have a condition detected by blood spot screening. Babies with in-range results do not need more testing.
Related conditions
1. Newborn Screening. Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) [accessed on Jan 09, 2019]
2. What is newborn screening? - Genetics Home Reference - NIH [accessed on Jan 09, 2019]
3. Newborn screening tests: MedlinePlus Medical Encyclopedia [accessed on Jan 09, 2019]
4. Newborn blood spot test - NHS [accessed on Jan 09, 2019]
5. Frequently Asked Questions About Newborn Bloodspot Screening | National Newborn Screening and Global Resource Center [accessed on Jan 09, 2019]
6. New York | Baby's First Test | Newborn Screening | Baby Health [accessed on Jan 09, 2019]
7. Newborn Screening | Lab Tests Online [accessed on Jan 09, 2019]
8. Newborn Screening Tests (for Parents) [accessed on Jan 09, 2019]

Additional Materials (24)

Newborn screening

Newborn baby feet and letters of A, T, C G.

Image by www.genome.gov

Newborn Screening

Newborn screening tests use a dried blood sample collected during the first week after birth to measure the presence of disease biomarkers (a measurable substance or characteristic that is indicative of a disease).

Image by National Human Genome Research Institute (NHGRI)

Infographic Newborn screening system

Infographic Newborn screening system

Image by Colorado Department of Public Health and Environment

The Public Health Lab: Newborn Screening

Video by mnhealth/YouTube

Cystic Fibrosis Newborn Screening.

Video by Nemours/YouTube

Newborn Screening and Fabry Disease: What We Know and Don't Know

Video by Rare Disease Report/YouTube

Newborn Hearing Screening - Boys Town National Research Hospital

Video by BoysTownHospital/YouTube

Beyond the Blood Spot: Newborn Screening for Hearing Loss and Critical Congenital Heart Disease

Video by Centers for Disease Control and Prevention (CDC)/YouTube

What is newborn screening? Animated video for parents.

Video by PerkinElmer, Inc./YouTube

Newborn Screening

Video by Mayo Clinic/YouTube

Cystic Fibrosis Newborn Screening Information for Pediatricians

Video by Nemours/YouTube

Newborn screening test: guidelines for care providers

Video by Sunnybrook Hospital/YouTube

Newborn Screening: A Personal Story

Video by March of Dimes/YouTube

Your Newborn's Health Screening

Video by KK Women's and Children's Hospital/YouTube

Cystic Fibrosis Newborn Screening | Cincinnati Children's

Video by Cincinnati Children's/YouTube

How Newborn Hearing Screening Helps Children

Video by Washington State Department of Health/YouTube

X-Linked Adrenoleukodystrophy: Newborn Screening in Males

Video by The WSRGN/YouTube

HGP10 Symposium: Whole Genome Sequencing in Newborn Screening - Jeff Botkin

Video by National Human Genome Research Institute/YouTube

Expanding Newborn Screening to X-ALD — What Else Might We Find and How Will This Impact Patients?

Video by UW Video/YouTube

Beyond the Blood Spot: Newborn Screening for Hearing Loss and Critical Congenital Heart Disease

Video by Centers for Disease Control and Prevention (CDC)/YouTube

California Department of Public Health's Newborn Screening Program

Video by CA Public Health/YouTube

SCID

Video by Immune Deficiency Foundation/YouTube

Phenylketonuria (PKU)

Video by Nutricia Metabolics/YouTube

WHAT IS MLD? Metachromatic Leukodystrophy explained to all

Video by YourekaScience/YouTube

Newborn screening

www.genome.gov

Newborn Screening

National Human Genome Research Institute (NHGRI)

Infographic Newborn screening system

Colorado Department of Public Health and Environment

1:52

The Public Health Lab: Newborn Screening

mnhealth/YouTube

5:50

Cystic Fibrosis Newborn Screening.

Nemours/YouTube

3:37

Newborn Screening and Fabry Disease: What We Know and Don't Know

Rare Disease Report/YouTube

1:54

Newborn Hearing Screening - Boys Town National Research Hospital

BoysTownHospital/YouTube

14:52

Beyond the Blood Spot: Newborn Screening for Hearing Loss and Critical Congenital Heart Disease

Centers for Disease Control and Prevention (CDC)/YouTube

3:19

What is newborn screening? Animated video for parents.

PerkinElmer, Inc./YouTube

2:25

Newborn Screening

Mayo Clinic/YouTube

8:16

Cystic Fibrosis Newborn Screening Information for Pediatricians

Nemours/YouTube

2:45

Newborn screening test: guidelines for care providers

Sunnybrook Hospital/YouTube

3:25

Newborn Screening: A Personal Story

March of Dimes/YouTube

9:30

Your Newborn's Health Screening

KK Women's and Children's Hospital/YouTube

2:42

Cystic Fibrosis Newborn Screening | Cincinnati Children's

Cincinnati Children's/YouTube

3:02

How Newborn Hearing Screening Helps Children

Washington State Department of Health/YouTube

6:20

X-Linked Adrenoleukodystrophy: Newborn Screening in Males

The WSRGN/YouTube

35:56

HGP10 Symposium: Whole Genome Sequencing in Newborn Screening - Jeff Botkin

National Human Genome Research Institute/YouTube

1:00:03

Expanding Newborn Screening to X-ALD — What Else Might We Find and How Will This Impact Patients?

UW Video/YouTube

1:04:18

Beyond the Blood Spot: Newborn Screening for Hearing Loss and Critical Congenital Heart Disease

Centers for Disease Control and Prevention (CDC)/YouTube

3:24

California Department of Public Health's Newborn Screening Program

CA Public Health/YouTube

7:55

SCID

Immune Deficiency Foundation/YouTube

7:07

Phenylketonuria (PKU)

Nutricia Metabolics/YouTube

5:57

WHAT IS MLD? Metachromatic Leukodystrophy explained to all

YourekaScience/YouTube

Complete Blood Count

Complete Blood Count

Also called: CBC, Full Blood Count, Blood Cell Count, Hemotology Panel

A complete blood count (CBC) is often part of a routine exam. It is used to measure different parts and features of your blood. A CBC can help detect a variety of disorders including infections, anemia, diseases of the immune system, and blood cancers.

Complete Blood Count

Also called: CBC, Full Blood Count, Blood Cell Count, Hemotology Panel

A complete blood count (CBC) is often part of a routine exam. It is used to measure different parts and features of your blood. A CBC can help detect a variety of disorders including infections, anemia, diseases of the immune system, and blood cancers.

A complete blood count, or CBC, is a blood test that measures many different parts and features of your blood, including:
- Red blood cells, which carry oxygen from your lungs to the rest of your body.
- White blood cells, which fight infections and other diseases. There are five major types of white blood cells. A CBC test measures the total number of white cells in your blood. A different test called a CBC with differential measures the number of each type of these white blood cells.
- Platelets, which stop bleeding by helping your blood to clot.
- Hemoglobin, a protein in red blood cells that carries oxygen from your lungs to the rest of your body.
- Hematocrit, a measurement of how much of your blood is made up of red blood cells.
- Mean corpuscular volume (MCV), a measure of the average size of your red blood cells.
Other names for a complete blood count: CBC, full blood count, blood cell count
Your health care provider may have ordered a complete blood count as part of your checkup or to monitor your overall health. The test may also be used to:
- Help diagnose blood diseases, infection, immune system disorders, or other medical conditions
- Check for changes in an existing blood disorder
A CBC counts the cells in your blood. There are many reasons your levels may not be in the normal range. For example:
- Abnormal levels of red blood cells, hemoglobin, or hematocrit may be a sign of anemia, heart disease, or too little iron in your body.
- Low white cell count may be a sign of an autoimmune disorder, bone marrow disorder, or cancer.
- High white cell count may be a sign of an infection or a reaction to medicine.
If any of your levels are abnormal, it doesn't always mean you have a medical condition that needs treatment. Diet, activity level, medicines, a menstrual period, not drinking enough water, and other factors can affect the results. Talk with your provider to learn what your results mean.
1. Complete Blood Count (CBC): MedlinePlus Medical Test [accessed on Jan 20, 2024]
2. Blood Tests - Blood Tests | NHLBI, NIH. Mar 24, 2022 [accessed on Jan 20, 2024]

Additional Materials (25)

Reticulocyte Count, Hemorrhage/Chronic Blood Loss

Reticulocytes are immature red blood cells (RBCs) released into the bloodstream from the bone marrow in which they developed. Normally, only a tiny percentage red blood cells circulating in the bloodstream are reticulocytes. The reticulocyte count rises, however, when bone marrow is called upon to produce more RBCs, in conditions such as heavy bleeding or certain types of anemia.

Image by TheVisualMD

Blood sample

During the blood collection process, medical personnel gather additional blood samples to test for an array of blood disorders and communicable diseases. Every unit of blood is rigorously tested before approved for transfusion into a patient.

Image by United States Marine Corps

Phlebotomy

Venipuncture (blood draw / collection) in the left arm of a male.

Image by MatthewLammers

Blood and Related Conditions

Blood and Related Conditions : Anemia results when there are too few red blood cells circulating in the bloodstream to deliver adequate oxygen to body tissues. There are different types and causes of anemia, including malnutrition, chronic bleeding, and diseases that result in red blood cells either being destroyed too quickly or produced too slowly.

Image by TheVisualMD

Components of Blood

Components of Blood : Our blood is composed of many different components, the largest categories being red and white blood cells (blood-clotting platelets are another key component) and the liquid portion known as blood plasma. A Complete Blood Count (CBC) includes several of the most basic, yet important, measurements of these components.

Image by TheVisualMD

Blood fractionation

Vial of separated blood. The middle layer is a type of sterile goo which separates the blood from the rest of what's drawn.

Image by Wheeler Cowperthwaite from Reno, USA

Whole Blood

A Red Cross whole blood donation before any separation

Image by Whoisjohngalt

White Blood Cells Rotation

This rotational interactive features five white blood cells. At the top left is a neutrophil (purple nucleus); center is a Monocyte-macrophage (orange nucleus); top right is a Lymphocyte (red nucleus); bottom left a Basophil (green nucleus); and bottom right an Eosinophil (yellow nucleus). These molecules are all part of a white blood cell count test. A white blood cell count is an important measure of this key component of the immune system; when the body is under attack, more WBCs are produced. White blood cells (also called leukocytes or WBCs) are in the front lines in the fight against harmful viruses, bacteria and even fungus. A white blood cell count is an important measure of this key component of the immune system; when the body is under attack, more WBCs are produced. Other factors, however, may also affect WBC counts, including allergies, chemotherapy, and other drugs, as well as leukemia.

Image by TheVisualMD

Medical Checkups

Image by TheVisualMD

Medical Checkups

Most doctors believe that people should have regular checkups as a part of preventive treatment. Regular health exams can help find problems before they begin, or in their early stages, when the chances of successful treatment are best. Blood Pressure Reading: Photo Copyright 2005, James Gathany

Image by TheVisualMD

This browser does not support the video element.

Complete Blood Count, and Baselining Your Health

Video Topics : Our lifeblood consists of many components and a complete blood count (CBC) includes measurements of the fundamental elements. The largest categories are red and white blood cells (RBCs and WBCs) and cell fragments called platelets, which play roles in blood clotting. There are 20-30 trillion red blood cells in the body of an adult, each with a lifespan of about 100 days (RBCs contain an iron-containing protein called hemoglobin that enables them to carry oxygen to tissues throughout the body and then return carbon dioxide to the lungs). WBCs are in the front lines in the body's ongoing fight against harmful viruses, bacteria and even fungus; when a pathogen enters the body, WBCs mobilize in a coordinated defense response to eliminate, neutralize or mark the invader for destruction. The liquid portion of blood is called plasma and it carries nutrients, electrolytes, waste products, and hormones.

Video by TheVisualMD

Full Blood Count – what it tells your doctor about your health

Video by Pathology Tests Explained/YouTube

Complete Blood Count (CBC)

Video by Medicosis Perfectionalis/YouTube

Complete Blood Count

Video by Tom Wade MD/YouTube

high white blood cell count Video

Video by itbestshop/YouTube

Complete Blood Count pt1

Video by Med Immersion/YouTube

Complete Blood Count pt2

Video by Med Immersion/YouTube

This browser does not support the video element.

Normal Red Blood Cell (RBC) Count

An animation simulating a view of a healthy count of red blood cells as viewed in a slide projector or under a microscope. Initially, the screen in white with a circular black vignette along its borders. Then a still showing red blood cells slides up from the bottom left filling the screen and then comes into focus. The red blood cells resemble those taken from an scanning electron micrograph (SEM) and fill up the given space on the screen.

Video by TheVisualMD

This browser does not support the video element.

Anemic Blood Flow

Camera is stationary as it focuses on a capillary in a cell bed demonstrating anemic blood flow and it's lower red blood cell count.

Video by TheVisualMD

This browser does not support the video element.

Anemic Red Blood Cell (RBC) Count

An animation simulating a view of an unhealthy count of red blood cells as viewed in a slide projector or under a microscope. Initially, the screen in white with a circular black vignette along its borders. Then a still showing red blood cells on a light red background slides up from the bottom left filling the screen and then comes into focus. The red blood cells resemble those taken from an scanning electron micrograph (SEM). There are only a few red blood cells in this slide indicative of the low amount typical of some one who is anemic.

Video by TheVisualMD

This browser does not support the video element.

Anemic Red Blood Cell (RBC) Count

An animation simulating a close-up of an unhealthy count of red blood cells as viewed in a slide projector or under a microscope. Initially, the screen in white with a circular black vignette along its borders. Then a still showing red blood cells on a light red background slides up from the bottom left filling the screen and then comes into focus. Throughout the animation, the slide jitters a little. The red blood cells resemble those taken from an scanning electron micrograph (SEM). In this close up there are a few red blood cells along with a few white blood cells.

Video by TheVisualMD

Why Blood Tests Can Save Your Life

Video by Seeker+/YouTube

Introduction to lab values and normal ranges | Health & Medicine | Khan Academy

Video by khanacademymedicine/YouTube

Low blood counts and the risk of infection in cancer patients | Norton Cancer Institute

Video by Norton Healthcare/YouTube

Dr. Erba Describes Proper Diagnostic Testing of CML

Video by OncLiveTV/YouTube

Reticulocyte Count, Hemorrhage/Chronic Blood Loss

TheVisualMD

Blood sample

United States Marine Corps

Phlebotomy

MatthewLammers

Blood and Related Conditions

TheVisualMD

Components of Blood

TheVisualMD

Blood fractionation

Wheeler Cowperthwaite from Reno, USA

Whole Blood

Whoisjohngalt

White Blood Cells Rotation

TheVisualMD

Medical Checkups

TheVisualMD

Medical Checkups

TheVisualMD

2:12

Complete Blood Count, and Baselining Your Health

TheVisualMD

4:18

Full Blood Count – what it tells your doctor about your health

Pathology Tests Explained/YouTube

7:04

Complete Blood Count (CBC)

Medicosis Perfectionalis/YouTube

4:11

Complete Blood Count

Tom Wade MD/YouTube

8:22

high white blood cell count Video

itbestshop/YouTube

16:12

Complete Blood Count pt1

Med Immersion/YouTube

22:14

Complete Blood Count pt2

Med Immersion/YouTube

0:06

Normal Red Blood Cell (RBC) Count

TheVisualMD

0:07

Anemic Blood Flow

TheVisualMD

0:14

Anemic Red Blood Cell (RBC) Count

TheVisualMD

0:14

Anemic Red Blood Cell (RBC) Count

TheVisualMD

8:29

Why Blood Tests Can Save Your Life

Seeker+/YouTube

10:42

Introduction to lab values and normal ranges | Health & Medicine | Khan Academy

khanacademymedicine/YouTube

1:32

Low blood counts and the risk of infection in cancer patients | Norton Cancer Institute

Norton Healthcare/YouTube

2:39

Dr. Erba Describes Proper Diagnostic Testing of CML

OncLiveTV/YouTube

Red Blood Cells

Red Blood Cell (RBC) Count

Also called: Erythrocyte Count, RBC Count, Red Blood Count, Red Blood Cell Count, Red Count

A red blood cell (RBC) count is a blood test that measures the number of red blood cells in your blood. Red blood cells carry oxygen from your lungs to the rest of your body. An abnormal RBC count can be a sign of a serious health problem.

Red Blood Cell (RBC) Count

Also called: Erythrocyte Count, RBC Count, Red Blood Count, Red Blood Cell Count, Red Count

A red blood cell (RBC) count is a blood test that measures the number of red blood cells in your blood. Red blood cells carry oxygen from your lungs to the rest of your body. An abnormal RBC count can be a sign of a serious health problem.

{"label":"RBC count reference range","scale":"lin","step":0.1,"hideunits":false,"items":[{"flag":"abnormal","label":{"short":"Low","long":"Low","orientation":"horizontal"},"values":{"min":0,"max":3.9},"text":"If your RBC count, hemoglobin, and hematocrit levels are low, you have anemia (a condition where the blood is unable to transport enough oxygen to the tissues and organs). ","conditions":["Anemia","Leukemia","Malnutrition","Multiple myeloma","Kidney failure","Pregnancy"]},{"flag":"normal","label":{"short":"Normal","long":"Normal","orientation":"horizontal"},"values":{"min":3.9,"max":5.5},"text":"Red blood cells (RBC) are made in the bone marrow and contain hemoglobin, a protein that carries oxygen to the tissues in the body. RBCs make up approximately 44% of the total blood volume.","conditions":[]},{"flag":"abnormal","label":{"short":"High","long":"High","orientation":"horizontal"},"values":{"min":5.5,"max":20},"text":"If your RBC count, hemoglobin, and hematocrit levels are high, you have polycythemia (a condition that causes a decreased blood flow). RBC count normally increases for several weeks when in a higher altitude.","conditions":["Dehydration","Heart disease","Polycythemia vera","Scarring of the lungs","Lung disease","Kidney cancer"]}],"units":[{"printSymbol":"(10<sup>6<\/sup>)\/\u03bcL","code":"10*6\/uL","name":"million per microliter"}],"value":4.7,"disclaimer":"Normal reference ranges can vary depending on the laboratory and the method used for testing. You must use the range supplied by the laboratory that performed your test to evaluate whether your results are \"within normal limits.\""}[{"abnormal":0},{"normal":0},{"abnormal":0}]
Use the slider below to see how your results affect your health.
(10<sup>6</sup>)/μL
3.9
5.5
Your result is Normal.
Red blood cells (RBC) are made in the bone marrow and contain hemoglobin, a protein that carries oxygen to the tissues in the body. RBCs make up approximately 44% of the total blood volume.
Related conditions
You may get this test as part of a complete blood count, which is often included in a routine checkup. You may also need this test if you have symptoms of a low or high red blood cell count.
Symptoms of a low red blood cell count include:
- Weakness
- Fatigue
- Pale skin
- Rapid heartbeat
Symptoms of a high red blood cell count include:
- Headache
- Dizziness
- Vision problems
Your results will show whether you have a normal red blood cell count or a count that is too low or too high.
A low red blood cell count can be a sign of:
- Anemia
- Leukemia, a type of blood cancer
- Malnutrition, a condition in which your body does not get the calories, vitamins, and/or minerals needed for good health
- Multiple myeloma, a cancer of the bone marrow
- Kidney failure
It may also be a sign of pregnancy.
A high red blood cell count can be a sign of:
- Dehydration
- Heart disease
- Polycythemia vera, a bone marrow disease that causes too many red blood cells to be made
- Scarring of the lungs, often due to cigarette smoking
- Lung disease
- Kidney cancer
If you have questions about your results, talk to your health care provider.
If results showed you had a low or a high red blood cell count, you may need more tests to help make a diagnosis. These include:
- Reticulocyte count, a test that counts the number of reticulocytes in the blood. Reticulocytes are red blood cells that are still developing. These are also known as immature red blood cells.
- Iron tests, which measure iron levels in the blood. Iron is essential for making red blood cells.
- Vitamin B test, which measures the amount of one or more B vitamins in the blood. B vitamins are important for making red blood cells.
1. Red Blood Cell (RBC) Count: MedlinePlus Medical Test [accessed on Jan 20, 2024]
2. RBC count: MedlinePlus Medical Encyclopedia [accessed on Jan 20, 2024]
3. Red Blood Cell Count (RBC) Test - Testing.com. Sep 27, 2022 [accessed on Jan 20, 2024]

Normal reference ranges can vary depending on the laboratory and the method used for testing. You must use the range supplied by the laboratory that performed your test to evaluate whether your results are "within normal limits."

Additional Materials (19)

Red blood cells

Red blood cells

Image by John Kalekos of Massachusetts image distribution for Science and Learning

Red Blood Cell

This image shows two red blood cells. The red blood cell is also called an erythrocyte: erythro is Greek for \"red,\" cyte is Latin for \"cell.\" The disc-shaped RBCs have the critical job of transporting oxygen from the lungs to the body's cells and bringing carbon dioxide from the cells back to the lungs to be expelled.

Image by TheVisualMD

Red Blood Cell in Capillary

The cardiovascular system is vast network of arteries, veins and vessels that would extend 60,000 miles if stretched end-to-end. All but a tiny fraction of this vessel network is invisible to the naked eye. The smallest capillaries (from latin "hairlike") are so narrow that red blood cells must pass through in single file. Higher than normal blood iron levels have been linked to heart disease and the reason is believed to be the oxidative stress the excess iron places on the walls of the blood vessels. It is the biological counterpart of rust. There are 20-30 trillion red blood cells (RBCs) in an adult's body. The life span of RBCs, which are produced in bone marrow, is about 100 days, which means that 2 million die (and are replaced) each second, but in that short lifetime they can make 75,000 round trips between lungs, heart and tissues in the body.

Image by TheVisualMD

Blood Smear Showing Reduced Red Blood Cell Count

Individual blood cells were first detected and described in the 17th century. Later, red blood cells (RBCs) were counted manually from a blood smear, a thin film of blood prepared on a glass slide and examined under a microscope (blood analysis is now automated, though smears are still used to detect visible abnormalities and to check or confirm the results of other tests). Anemia results when there are too few RBCs in circulation because they are being destroyed too quickly or produced too slowly. Anemia can be temporary or long term and range from mild to severe. Folate (also known as vitamin B9) is necessary for red blood cell production and the prevention of anemia, as well as the metabolism of carbohydrates. But folate also plays key roles in the synthesis and maintenance of DNA and is especially important in cell division and growth in fetal development (deficiencies of the vitamin in pregnancy is a common cause of birth defects). Pernicious anemia is a disorder in which the body's loses its ability to utilize folate and vitamin B12.

Image by TheVisualMD

Red Blood Cell (RBC)

There are 20-30 trillion red blood cells (RBCs) in an adult's body. The life span of RBCs, which are produced in bone marrow, is about 100 days, which means that 2 million die (and are replaced) each second. In their short lifetimes, however, red blood cells can make 75,000 round trips between lungs, heart and tissues in the body.

Image by TheVisualMD

Red Blood Cell

The RBC is disc-shaped and concave on both sides. The concave shape increases the cells' surface area, which allows them to distribute more oxygen to the body's cells. The shape also enables the cells to bunch together more compactly, helping them travel through the bloodstream more efficiently. Some RBCs are a bit thicker or thinner, wider or longer than others, but can change their shape to suit the demands of their environment. The cell membranes of the RBCs are protein meshes that give them flexibility, allowing them to navigate the twists and turns of the blood vessel network. The nearly 300 million hemoglobin molecules contained within each RBC easily move and slide past each other within the cell, adjusting their positions to conform to the RBC's shifting shape. Diameter : 7 μm

Image by TheVisualMD

Capillary Revealing Red Blood Cell

A portion of a capillary wall has been cut away to reveal the red blood cells flowing within.

Image by TheVisualMD

Red Blood Cell and White Blood Cell

Medical visualization of red blood cells and leukocytes.

Image by TheVisualMD

Blood Smear Showing Normal Red Blood Cell Count

Individual blood cells were first detected and described in the 17th century. Later, red blood cells were counted manually from a blood smear, a thin film of blood prepared on a glass slide and examined under a microscope. Blood analysis is now automated, though blood smears are still used to detect visible abnormalities and to check or confirm the results of other tests. There are normally between 4.2-5.8 million red blood cells per microliter (about a drop), which means there are 20-30 trillion red blood cells circulating through the body of an adult.

Image by TheVisualMD

Tubule of Nephron Revealing Many Red Blood Cell

This image shows the cut distal convoluted tubule of nephron with surrounding capillaries cut to reveal many red blood cells and healthy amounts of Erythopoeitin, EPO, (yellow particles). Erythropoeitin, EPO, is produced by the endothelial cells of the capillaries and the fibroblasts in the interstitial tissue surrounding the distal tubules. Normally, the kidneys produce EPO in response to low oxygen levels in order to stimulate red blood cell production in the bone marrow. A normal amount of red blood cells allows for the delivery of an adequate supply of oxygen.

Image by TheVisualMD

Red Blood Cell in Capillary

This image shows red blood cells traveling through capillaries, the smallest blood vessels in the body.

Image by TheVisualMD

Tubule of Nephron Revealing Few Red Blood Cell

Our kidneys are remarkable filters. Each day, they filter about 200 quarts of blood to extract about 2 quarts of wastes, which is then eliminated as urine. The kidneys' delicate filtration units are called nephrons; each kidney has about a million nephrons, and within each nephron are dense forests of tiny capillaries called glomeruli, which remove waste products from the blood while preventing the loss of other components, including proteins, electrolytes and blood cells. The glomerular filtration rate is the amount of blood that is filtered by the glomeruli per minute.

Image by TheVisualMD

This browser does not support the video element.

Complete Blood Count, and Baselining Your Health

Video Topics : Our lifeblood consists of many components and a complete blood count (CBC) includes measurements of the fundamental elements. The largest categories are red and white blood cells (RBCs and WBCs) and cell fragments called platelets, which play roles in blood clotting. There are 20-30 trillion red blood cells in the body of an adult, each with a lifespan of about 100 days (RBCs contain an iron-containing protein called hemoglobin that enables them to carry oxygen to tissues throughout the body and then return carbon dioxide to the lungs). WBCs are in the front lines in the body's ongoing fight against harmful viruses, bacteria and even fungus; when a pathogen enters the body, WBCs mobilize in a coordinated defense response to eliminate, neutralize or mark the invader for destruction. The liquid portion of blood is called plasma and it carries nutrients, electrolytes, waste products, and hormones.

Video by TheVisualMD

Red Blood Cell (RBC) Indices (Anemia Labs)

Video by Nursing School Explained/YouTube

WellnessFX: Red Blood Cell Indices Part 1 with Bryan Walsh

Video by WellnessFX/YouTube

WellnessFX: Red Blood Cell Indices Part 2 with Bryan Walsh

Video by WellnessFX/YouTube

Red Blood Cells Nursing Considerations, Normal Range, Nursing Care, Lab Values Nursing

Video by NURSINGcom/YouTube

This browser does not support the video element.

Flowing Red Blood Cell (RBC)

Animation of red blood cells flowoing quicly through a blood vessel. The camera is positioned in the lumen of the vessel and the rbc's are flowing towards the viewer. The rbc and and lumen are rendered with muted colors to give it a softer look.

Video by TheVisualMD

This browser does not support the video element.

Red Blood Cell Development

This video explains red blood cell development, following a pluripotent stem cell to red blood cell.

Video by TheVisualMD

Red blood cells

John Kalekos of Massachusetts image distribution for Science and Learning

Red Blood Cell

TheVisualMD

Red Blood Cell in Capillary

TheVisualMD

Blood Smear Showing Reduced Red Blood Cell Count

TheVisualMD

Red Blood Cell (RBC)

TheVisualMD

Red Blood Cell

TheVisualMD

Capillary Revealing Red Blood Cell

TheVisualMD

Red Blood Cell and White Blood Cell

TheVisualMD

Blood Smear Showing Normal Red Blood Cell Count

TheVisualMD

Tubule of Nephron Revealing Many Red Blood Cell

TheVisualMD

Red Blood Cell in Capillary

TheVisualMD

Tubule of Nephron Revealing Few Red Blood Cell

TheVisualMD

2:12

Complete Blood Count, and Baselining Your Health

TheVisualMD

7:45

Red Blood Cell (RBC) Indices (Anemia Labs)

Nursing School Explained/YouTube

33:35

WellnessFX: Red Blood Cell Indices Part 1 with Bryan Walsh

WellnessFX/YouTube

28:05

WellnessFX: Red Blood Cell Indices Part 2 with Bryan Walsh

WellnessFX/YouTube

3:01

Red Blood Cells Nursing Considerations, Normal Range, Nursing Care, Lab Values Nursing

NURSINGcom/YouTube

0:12

Flowing Red Blood Cell (RBC)

TheVisualMD

0:31

Red Blood Cell Development

TheVisualMD

White Blood Cells

White Blood Count (WBC)

Also called: WBC, WBC Blood Test, White Blood Count, White Blood Cell Count, Leukocyte Count, Leukopenia Test, Leukocytosis Test

A white blood count measures the number of white cells in your blood. White blood cells are part of the immune system. A count that is too high or too low can indicate an infection, immune system disorder, or another health problem.

White Blood Count (WBC)

Also called: WBC, WBC Blood Test, White Blood Count, White Blood Cell Count, Leukocyte Count, Leukopenia Test, Leukocytosis Test

A white blood count measures the number of white cells in your blood. White blood cells are part of the immune system. A count that is too high or too low can indicate an infection, immune system disorder, or another health problem.

{"label":"WBC count reference range","scale":"lin","step":1,"hideunits":false,"items":[{"flag":"abnormal","label":{"short":"Low","long":"Low","orientation":"horizontal"},"values":{"min":0,"max":4500},"text":"A low white blood cell count, called leukopenia, can result from a number of conditions and diseases, such as immune deficiencies, severe infections, and bone marrow disorders, among others. ","conditions":["Cancer","Severe infection","Bone marrow failure","Damage to the bone marrow","Drug toxicity","Aplastic anemia","Nutritional deficiencies","Autoimmune disorders"]},{"flag":"normal","label":{"short":"Normal","long":"Normal","orientation":"horizontal"},"values":{"min":4500,"max":11000},"text":"Normally, people produce about 100 billion white blood cells (WBCs) a day. The total white blood cell count normally ranges between 4,500 and 11,000 WBCs per microliter.","conditions":[]},{"flag":"abnormal","label":{"short":"High","long":"High","orientation":"horizontal"},"values":{"min":11000,"max":50000},"text":"A high white blood cell count, called leukocytosis, may result from a number of conditions and diseases, such as infections, inflammatory diseases, and physical stress, among others. ","conditions":["Infections","Inflammatory conditions","Allergic responses","Leukemia","Trauma","Burns","Physical stress"]}],"value":7750,"disclaimer":"Normal reference ranges can vary depending on the laboratory and the method used for testing. You must use the range supplied by the laboratory that performed your test to evaluate whether your results are \"within normal limits.\""}[{"abnormal":0},{"normal":0},{"abnormal":0}]
Use the slider below to see how your results affect your health.
4500
11000
Your result is Normal.
Normally, people produce about 100 billion white blood cells (WBCs) a day. The total white blood cell count normally ranges between 4,500 and 11,000 WBCs per microliter.
Related conditions
A white blood count measures the number of white cells in your blood. White blood cells are part of the immune system. They help your body fight off infections and other diseases.
When you get sick, your body makes more white blood cells to fight the bacteria, viruses, or other foreign substances causing your illness. This increases your white blood count.
Other diseases can cause your body to make fewer white blood cells than you need. This lowers your white blood count. Diseases that can lower your white blood count include some types of cancer and HIV/AIDS, a viral disease that attacks white blood cells. Certain medicines, including chemotherapy, may also lower the number of your white blood cells.
There are five major types of white blood cells:
- Neutrophils
- Lymphocytes
- Monocytes
- Eosinophils
- Basophils
A white blood count measures the total number of these cells in your blood. Another test, called a blood differential, measures the amount of each type of white blood cell.
Other names: WBC count, white cell count, white blood cell count
A white blood count is most often used to help diagnose disorders related to having a high white blood cell count or low white blood cell count.
Disorders related to having a high white blood count include:
- Autoimmune and inflammatory diseases, conditions that cause the immune system to attack healthy tissues
- Bacterial or viral infections
- Cancers such as leukemia and Hodgkin disease
- Allergic reactions
Disorders related to having a low white blood count include:
- Diseases of the immune system, such as HIV/AIDS
- Lymphoma, a cancer of the bone marrow
- Diseases of the liver or spleen
A white blood count can show if the number of your white blood cells is too high or too low, but it can't confirm a diagnosis. So it is usually done along with other tests, such as a complete blood count, blood differential, blood smear, and/or bone marrow test.
You may need this test if you have signs of an infection, inflammation, or autoimmune disease. Symptoms of infection include:
- Fever
- Chills
- Body aches
- Headache
Symptoms of inflammation and autoimmune diseases will be different, depending on the area of inflammation and type of disease.
You may also need this test if you have a disease that weakens your immune system or are taking medicine that lowers your immune response. If the test shows your white blood count is getting too low, your provider may be able to adjust your treatment.
Your newborn or older child may also be tested as part of a routine screening, or if they have symptoms of a white blood cell disorder.
A high white blood count may mean you have one of the following conditions:
- A bacterial or viral infection
- An inflammatory disease such as rheumatoid arthritis
- An allergy
- Leukemia or Hodgkin disease
- Tissue damage from a burn injury or surgery
A low white blood count may mean you have one of the following conditions:
- Bone marrow damage. This may be caused by infection, disease, or treatments such as chemotherapy.
- Cancers that affect the bone marrow
- An autoimmune disorder, such as lupus (or SLE)
- HIV/AIDS
If you are already being treated for a white blood cell disorder, your results may show if your treatment is working or whether your condition has improved.
If you have questions about your results, talk to your health care provider.
White blood count results are often compared with results of other blood tests, including a blood differential. A blood differential test shows the amount of each type of white blood cell, such as neutrophils or lymphocytes. Neutrophils mostly target bacterial infections. Lymphocytes mostly target viral infections.
- A higher than normal amount of neutrophils is known as neutrophilia.
- A lower than normal amount is known as neutropenia.
- A higher than normal amount of lymphocytes is known as lymphocytosis.
- A lower normal amount is known as lymphopenia.
1. White Blood Count (WBC): MedlinePlus Medical Test [accessed on Jan 20, 2024]
2. WBC count: MedlinePlus Medical Encyclopedia [accessed on Jan 20, 2024]
3. White Blood Cell Count (WBC Blood Test) - Testing.com. Sep 28, 2022 [accessed on Jan 20, 2024]

Normal reference ranges can vary depending on the laboratory and the method used for testing. You must use the range supplied by the laboratory that performed your test to evaluate whether your results are "within normal limits."

Additional Materials (37)

White Blood Cell Count: Bone Marrow

Disease or damage to the bone marrow, caused by infection, cancer, radiation treatment, or chemotherapy can lower white blood cell count by impairing the marrow's ability to produce new white blood cells.

Image by TheVisualMD

White Blood Cells, Bone Marrow

Bone marrow is constantly producing blood cells, including white blood cells and red blood cells as well platelets, which are cell fragments important for blood clotting. Disease and disorders of the bone marrow can, in turn, affect the production of blood cells. Both cancer and cancer treatment (chemotherapy and radiation) can also have an impact on the bone marrow's ability to produce blood cells.

Image by TheVisualMD

This browser does not support the video element.

Complete Blood Count, and Baselining Your Health

Video Topics : Our lifeblood consists of many components and a complete blood count (CBC) includes measurements of the fundamental elements. The largest categories are red and white blood cells (RBCs and WBCs) and cell fragments called platelets, which play roles in blood clotting. There are 20-30 trillion red blood cells in the body of an adult, each with a lifespan of about 100 days (RBCs contain an iron-containing protein called hemoglobin that enables them to carry oxygen to tissues throughout the body and then return carbon dioxide to the lungs). WBCs are in the front lines in the body's ongoing fight against harmful viruses, bacteria and even fungus; when a pathogen enters the body, WBCs mobilize in a coordinated defense response to eliminate, neutralize or mark the invader for destruction. The liquid portion of blood is called plasma and it carries nutrients, electrolytes, waste products, and hormones.

Video by TheVisualMD

The Immune System Explained I – Bacteria Infection

Video by Kurzgesagt – In a Nutshell/YouTube

Immune Response to Bacteria

Video by NIAID/YouTube

Immunology - Adaptive Immune System

Video by Armando Hasudungan/YouTube

Immune System - Natural Killer Cell

Video by Kyle Thornthwaite/YouTube

Your Immune System: Natural Born Killer - Crash Course Biology #32

Video by CrashCourse/YouTube

White Blood Cell and Red Blood Cell

Medical visualization of blood cells. Depicted are numerous red blood cells and a single white blood cell.

Image by TheVisualMD

White Blood Cell and Red Blood Cell

Medical visualization of blood cells. Depicted are numerous red blood cells and a single white blood cell.

Image by TheVisualMD

Red Blood Cell and White Blood Cell

Visualization of red blood cells and a white blood cell

Image by TheVisualMD

Sensitive content

This media may include sensitive content

Blood cells (from left to right: erythrocyte, thrombocyte, leukocyte)

A single drop of blood contains millions of red blood cells, white blood cells, and platelets. One of each type is shown here, isolated from a scanning electron micrograph.

Image by Electron Microscopy Facility at The National Cancer Institute at Frederick (NCI-Frederick)

Bone structure

Anatomy of the bone. The bone is made up of compact bone, spongy bone, and bone marrow. Compact bone makes up the outer layer of the bone. Spongy bone is found mostly at the ends of bones and contains red marrow. Bone marrow is found in the center of most bones and has many blood vessels. There are two types of bone marrow: red and yellow. Red marrow contains blood stem cells that can become red blood cells, white blood cells, or platelets. Yellow marrow is made mostly of fat.

Image by Smart Servier website

Blood Cells

Formed Elements of Blood

Image by Blausen.com staff (2014). \"Medical gallery of Blausen Medical 2014\"

Phagocytosis - C-reactive protein (CRP) is a substance made by the liver that is released into the bloodstream by inflammation and infection as part of the body's immune response.

C-reactive protein (CRP) is a substance made by the liver that is released into the bloodstream by inflammation and infection as part of the body's immune response. White blood cells are also mobilized by the immune system and CRP is believed to enhance the activity of the white blood cells called macrophages. Each type of white blood cell has its own specialized immune functions; macrophages, for example, basically engulf and \"eat\" foreign invaders such as bacteria, viruses and fungi. Macrophages in the spleen and the liver weed out old and defective red blood cells and break them into recyclables (iron, heme, and some globin) and wastes (such as bilirubin). The bilirubin is then used by the liver to produce bile, which is stored in the gallbladder and released into the small intestine to aid digestion.

Image by TheVisualMD

White blood cells

Immune cells surrounding hair follicles in mouse skin. These hair follicles are home to a diverse array of commensal bacteria.

Image by NIAID

Neutrophil

Neutrophil function, relationship to disease, and location in the human body. Credit: NIAID

Image by NIAID

Innate immune system

Image by US Gov

Macrophage Capturing Foreign Antigen

Cell-mediated immunity is an immune response that does not involve antibodies or complement but rather involves the activation of macrophages, natural killer cells (NK), antigen-specific cytotoxic T-lymphocytes, and the release of various cytokines in response to an antigen. Macrophages are white blood cells that engulf and digest cellular debris and pathogens

Image by TheVisualMD

Mast Cell

Mast cells produce histamine. Histamine is known for its role in inflammation. It affects a variety of behavior patterns including the sleep-wake cycle and food intake. Antihistamines may work at odds with inflammation and depression.

Image by TheVisualMD

Leukocytes

Image by OpenStax College

Innate immune system

Illustration of the Innate Immune System responding to injury.

Image by OpenStax College

Eosinophilia

Drawing of an eosinophil white blood cell

Image by Iceclanl

Two neutrophils among many red blood cells. Neutrophils are one type of cell affected by chronic granulomatous disease.

Image by Uploaded by Mgiganteus

Eosinophils

Eosinophil function, relationship to disease, and location in the human body.

Image by NIAID

Sensitive content

This media may include sensitive content

Blood Cells

This is a scanning electron microscope image from normal circulating human blood. One can see red blood cells, several white blood cells including lymphocytes, amonocyte, a neutrophil, and many small disc-shaped platelets. Red cells are nonnucleated and contain hemoglobin, an important protein that contains iron and allows the cell to carry oxygen to other parts of the body. They also carry carbon dioxide away from peripheral tissue to the lungs where it can be exhaled. The infection-fighting white blood cells are classified in two main groups: granular and agranular. All blood cells are formed in the bone marrow. There are two types of agranulocytes: lymphocytes, which fight disease by producing antibodies and thus destroying foreign material, and monocytes. Platelets are tiny cells formed in bone marrow and are necessary for blood clotting.

Image by Bruce Wetzel (photographer). Harry Schaefer (photographer), National Cancer Institute

Immune System and Autoimmune Diseases

Normally, an individual's immune system learns to identify and ignore all of the distinctive little structures found on that individual's own cells. Sometimes, however, it will make a mistake and identify its own body as foreign. If that happens, the immune system produces antibodies that attempt to destroy the body's own cells in the same way it would try to destroy a foreign invader.

Image by TheVisualMD

Eosinophils

Drawing of an eosinophil white blood cell

Image by BruceBlaus

Eosinophils

On the left there is a segmented polymorphonuclear neutrophil, on the right and below is one eosinophil leucocyte. For comparison the red blood cell have a diameter of 7-8 micrometers. The picture was taken with a Nikon Eclipse 600 microscope, magnification was 1000x.

Image by Davidcsaba Dr. David Csaba L.

Neutrophil action - Inflammation

Neutrophil granulocyte migrates from the blood vessel to the matrix, secreting proteolytic enzymes, in order to dissolve intercellular connections (for improvement of its mobility) and envelop bacteria through Phagocytosis.

Image by Uwe Thormann/Wikimedia

Neutrophil

Image by BruceBlaus

White Blood Cells

A type of immune cell. Most white blood cells are made in the bone marrow and are found in the blood and lymph tissue. White blood cells help the body fight infections and other diseases. Granulocytes, monocytes, and lymphocytes are white blood cells.

Image by Blausen.com staff (2014). "Medical gallery of Blausen Medical 2014"

high white blood cell count Video

Video by itbestshop/YouTube

What Are White Blood Cells | Health | Biology | FuseSchool

Video by FuseSchool - Global Education/YouTube

Learning to Decode Your Blood Test Results for Chronic Lymphocytic Leukemia (CLL)

Video by CLL Society/YouTube

WellnessFX: White Blood Cells And Differential with Bryan Walsh

Video by WellnessFX/YouTube

White Blood Count

White Blood Count

Image by TheVisualMD

White Blood Cell Count: Bone Marrow

TheVisualMD

White Blood Cells, Bone Marrow

TheVisualMD

2:12

Complete Blood Count, and Baselining Your Health

TheVisualMD

6:49

The Immune System Explained I – Bacteria Infection

Kurzgesagt – In a Nutshell/YouTube

1:47

Immune Response to Bacteria

NIAID/YouTube

14:59

Immunology - Adaptive Immune System

Armando Hasudungan/YouTube

3:02

Immune System - Natural Killer Cell

Kyle Thornthwaite/YouTube

15:02

Your Immune System: Natural Born Killer - Crash Course Biology #32

CrashCourse/YouTube

White Blood Cell and Red Blood Cell

TheVisualMD

White Blood Cell and Red Blood Cell

TheVisualMD

Red Blood Cell and White Blood Cell

TheVisualMD

Sensitive content

This media may include sensitive content

Blood cells (from left to right: erythrocyte, thrombocyte, leukocyte)

Electron Microscopy Facility at The National Cancer Institute at Frederick (NCI-Frederick)

Bone structure

Smart Servier website

Blood Cells

Blausen.com staff (2014). \"Medical gallery of Blausen Medical 2014\"

Phagocytosis - C-reactive protein (CRP) is a substance made by the liver that is released into the bloodstream by inflammation and infection as part of the body's immune response.

TheVisualMD

White blood cells

NIAID

Neutrophil

NIAID

Innate immune system

US Gov

Macrophage Capturing Foreign Antigen

TheVisualMD

Mast Cell

TheVisualMD

Leukocytes

OpenStax College

Innate immune system

OpenStax College

Eosinophilia

Iceclanl

Two neutrophils among many red blood cells. Neutrophils are one type of cell affected by chronic granulomatous disease.

Uploaded by Mgiganteus

Eosinophils

NIAID

Sensitive content

This media may include sensitive content

Blood Cells

Bruce Wetzel (photographer). Harry Schaefer (photographer), National Cancer Institute

Immune System and Autoimmune Diseases

TheVisualMD

Eosinophils

BruceBlaus

Eosinophils

Davidcsaba Dr. David Csaba L.

Neutrophil action - Inflammation

Uwe Thormann/Wikimedia

Neutrophil

BruceBlaus

White Blood Cells

Blausen.com staff (2014). "Medical gallery of Blausen Medical 2014"

8:22

high white blood cell count Video

itbestshop/YouTube

3:12

What Are White Blood Cells | Health | Biology | FuseSchool

FuseSchool - Global Education/YouTube

1:17:17

Learning to Decode Your Blood Test Results for Chronic Lymphocytic Leukemia (CLL)

CLL Society/YouTube

16:52

WellnessFX: White Blood Cells And Differential with Bryan Walsh

WellnessFX/YouTube

White Blood Count

TheVisualMD

Platelets

Platelet Count

Also called: Platelets, PLT Count, Platelet Adequacy, Thrombocyte Count, Thrombocytopenia Test, Thrombocytosis Test, Platelet count

A platelet count test measures the number of platelets in your blood. Platelets, also known as thrombocytes, are small blood cells that are essential for blood clotting. Platelets may be counted to monitor or diagnose diseases, or to look for the cause of too much bleeding or clotting.

Platelet Count

Also called: Platelets, PLT Count, Platelet Adequacy, Thrombocyte Count, Thrombocytopenia Test, Thrombocytosis Test, Platelet count

A platelet count test measures the number of platelets in your blood. Platelets, also known as thrombocytes, are small blood cells that are essential for blood clotting. Platelets may be counted to monitor or diagnose diseases, or to look for the cause of too much bleeding or clotting.

{"label":"Platelet count reference range","scale":"lin","step":1,"hideunits":false,"items":[{"flag":"abnormal","label":{"short":"VL","long":"Very low","orientation":"horizontal"},"values":{"min":1,"max":50},"text":"A lower-than-normal platelet count is called thrombocytopenia. This condition can cause you to bleed too much after a cut or other injury that causes bleeding. If your platelet count is very low, your risk for bleeding is higher. Even every day activities can cause bleeding. Thrombocytopenia can be life-threatening, especially if you have serious bleeding or bleeding in your brain. ","conditions":["Autoimmune disorders","Leukemia","Von Willebrand disease","Glanzmann's thrombasthenia","Bernard-Soulier syndrome","Storage pool disease","Acquired platelet dysfunction","Heavy alcohol intake","Severe bleeding"]},{"flag":"abnormal","label":{"short":"Low","long":"Low","orientation":"horizontal"},"values":{"min":50,"max":150},"text":"A lower-than-normal platelet count is called thrombocytopenia. This condition can cause you to bleed too much after a cut or other injury that causes bleeding. Bleeding can happen inside your body, underneath your skin, or from the surface of your skin.","conditions":["Thrombocytopenia","Autoimmune disorders","Leukemia","Von Willebrand disease","Glanzmann's thrombasthenia","Bernard-Soulier syndrome","Storage pool disease","Acquired platelet dysfunction","Heavy alcohol intake"]},{"flag":"normal","label":{"short":"N","long":"Normal","orientation":"horizontal"},"values":{"min":150,"max":450},"text":"A normal platelet count ranges from 150,000 to 450,000 platelets per microliter of blood. Platelets are tiny blood cells that are made in the bone marrow from larger cells. When you are injured, platelets stick together to form a plug to seal your wound. This plug is called a blood clot.","conditions":[]},{"flag":"abnormal","label":{"short":"H","long":"High","orientation":"horizontal"},"values":{"min":450,"max":1000},"text":"A higher-than-normal platelet count is called thrombocytosis. This can make your blood clot more than you need it to. Blood clots can be dangerous because they can block blood flow.","conditions":["Thrombocytosis","Essential thrombocythemia","Bone marrow disease","Infections","Spleen removal"]}],"units":[{"printSymbol":"(10³)\/\u03bcL","code":"10*3\/uL","name":"thousand per microliter"}],"value":300,"disclaimer":"Normal reference ranges can vary depending on the laboratory and the method used for testing. You must use the range supplied by the laboratory that performed your test to evaluate whether your results are \"within normal limits.\""}[{"abnormal":1},{"abnormal":0},{"normal":0},{"abnormal":0}]
Use the slider below to see how your results affect your health.
(10³)/μL
50
150
450
Your result is Normal.
A normal platelet count ranges from 150,000 to 450,000 platelets per microliter of blood. Platelets are tiny blood cells that are made in the bone marrow from larger cells. When you are injured, platelets stick together to form a plug to seal your wound. This plug is called a blood clot.
Related conditions
You may need platelet count testing if you have symptoms of having too few or too many platelets.
Symptoms of too few platelets include:
- Prolonged bleeding after a minor cut or injury
- Nosebleeds
- Unexplained bruising
- Pinpoint sized red spots on the skin, known as petechiae
- Purplish spots on the skin, known as purpura. These may be caused by bleeding under the skin.
- Heavy and/or prolonged menstrual periods
Symptoms of too many platelets include:
- Numbness of hands and feet
- Headache
- Dizziness
- Weakness
If your results show a lower than normal platelet count (thrombocytopenia), it may indicate:
- A cancer that affects the blood, such as leukemia or lymphoma
- A viral infection, such as mononucleosis, hepatitis, or measles
- An autoimmune disease. This is a disorder that causes the body to attack its own healthy tissues, which can include platelets.
- Infection or damage to the bone marrow
- Cirrhosis
- Vitamin B12 deficiency
- Gestational thrombocytopenia, a common, but mild, low-platelet condition affecting pregnant women. It is not known to cause any harm to a mother or her unborn baby. It usually gets better on its own during pregnancy or after birth.
If your results show a higher than normal platelet count (thrombocytosis), it may indicate:
- Certain types of cancer, such as lung cancer or breast cancer
- Anemia
- Inflammatory bowel disease
- Rheumatoid arthritis
- A viral or bacterial infection
1. Platelet Tests: MedlinePlus Medical Test [accessed on Jan 20, 2024]
2. Platelet Count (PLT) Blood Test - Testing.com. Dec 19, 2023 [accessed on Jan 20, 2024]
3. Platelet count: MedlinePlus Medical Encyclopedia [accessed on Jan 20, 2024]

Normal reference ranges can vary depending on the laboratory and the method used for testing. You must use the range supplied by the laboratory that performed your test to evaluate whether your results are "within normal limits."

Additional Materials (8)

Platelet Development

Illustration of Platelet Development

Image by OpenStax College

Sensitive content

This media may include sensitive content

Platelet Disorders

From left to right: erythrocyte, thrombocyte, leukocyte

Image by Electron Microscopy Facility at The National Cancer Institute at Frederick (NCI-Frederick)

Scheme of a blood sample after centrifugation

scheme of a blood sample after centrifugation

Image by KnuteKnudsen (talk)

Decode Your Blood Test: Platelets 💉 | Merck Manual Consumer Version

Video by Merck Manuals/YouTube

This browser does not support the video element.

Complete Blood Count, and Baselining Your Health

Video Topics : Our lifeblood consists of many components and a complete blood count (CBC) includes measurements of the fundamental elements. The largest categories are red and white blood cells (RBCs and WBCs) and cell fragments called platelets, which play roles in blood clotting. There are 20-30 trillion red blood cells in the body of an adult, each with a lifespan of about 100 days (RBCs contain an iron-containing protein called hemoglobin that enables them to carry oxygen to tissues throughout the body and then return carbon dioxide to the lungs). WBCs are in the front lines in the body's ongoing fight against harmful viruses, bacteria and even fungus; when a pathogen enters the body, WBCs mobilize in a coordinated defense response to eliminate, neutralize or mark the invader for destruction. The liquid portion of blood is called plasma and it carries nutrients, electrolytes, waste products, and hormones.

Video by TheVisualMD

Platelets Nursing Considerations, Normal Range, Nursing Care, Lab Values Nursing

Video by NURSINGcom/YouTube

Platelets Explained in Two Minutes

Video by American Red Cross/YouTube

The life and times of RBCs and platelets

Video by khanacademymedicine/YouTube

Platelet Development

OpenStax College

Sensitive content

This media may include sensitive content

Platelet Disorders

Electron Microscopy Facility at The National Cancer Institute at Frederick (NCI-Frederick)

Scheme of a blood sample after centrifugation

KnuteKnudsen (talk)

0:48

Decode Your Blood Test: Platelets 💉 | Merck Manual Consumer Version

Merck Manuals/YouTube

2:12

Complete Blood Count, and Baselining Your Health

TheVisualMD

3:54

Platelets Nursing Considerations, Normal Range, Nursing Care, Lab Values Nursing

NURSINGcom/YouTube

1:47

Platelets Explained in Two Minutes

American Red Cross/YouTube

10:35

The life and times of RBCs and platelets

khanacademymedicine/YouTube

Hemoglobin

Hemoglobin Blood Test

Also called: Hemoglobin, Hgb

A hemoglobin test measures the levels of hemoglobin in your blood. Hemoglobin is an iron-rich protein in red blood cells that carries oxygen. Abnormal levels may mean you have anemia or another blood disorder.

Hemoglobin Blood Test

Also called: Hemoglobin, Hgb

A hemoglobin test measures the levels of hemoglobin in your blood. Hemoglobin is an iron-rich protein in red blood cells that carries oxygen. Abnormal levels may mean you have anemia or another blood disorder.

{"label":"Hemoglobin reference range","scale":"lin","step":0.1,"hideunits":false,"items":[{"flag":"abnormal","label":{"short":"Low","long":"Low","orientation":"horizontal"},"values":{"min":0,"max":13.8},"text":"Low levels of hemoglobin indicate that there is a shortage of red blood cells; this can be the result of RBCs being lost or destroyed too quickly or produced too slowly.","conditions":["Iron deficiency","Vitamin B12 deficiency","Folate deficiency","Sickle cell disease","Thalassemia","Cirrhosis","Bone marrow damage","Chronic disease","Acute or chronic bleeding"]},{"flag":"normal","label":{"short":"Normal","long":"Normal","orientation":"horizontal"},"values":{"min":13.8,"max":17.2},"text":"Heme, an iron-containing molecule, combines with globin proteins to form hemoglobin, which carries oxygen in red blood cells from the lungs to the rest of the body. ","conditions":[]},{"flag":"abnormal","label":{"short":"High","long":"High","orientation":"horizontal"},"values":{"min":17.2,"max":30},"text":"High levels of hemoglobin can be the result of dehydration, lung disease and other conditions.","conditions":["Polycythemia","Dehydration","Bone marrow diseases","Severe lung disease","Heart disease","Smoking","Living at high altitudes"]}],"units":[{"printSymbol":"g\/dL","code":"g\/dL","name":"gram per deciliter"}],"value":15.5,"disclaimer":"Normal reference ranges can vary depending on the laboratory and the method used for testing. You must use the range supplied by the laboratory that performed your test to evaluate whether your results are \"within normal limits.\""}[{"abnormal":0},{"normal":0},{"abnormal":0}]
Use the slider below to see how your results affect your health.
g/dL
13.8
17.2
Your result is Normal.
Heme, an iron-containing molecule, combines with globin proteins to form hemoglobin, which carries oxygen in red blood cells from the lungs to the rest of the body.
Related conditions
Your health care provider may order the test as part of a routine exam, or if you have:
- Symptoms of anemia, which include weakness, dizziness, and cold hands and feet
- A family history of thalassemia, sickle cell anemia, or other inherited blood disorder
- A diet low in iron and other minerals
- A long-term infection
- Excessive blood loss from an injury or surgical procedure
There are many reasons your hemoglobin levels may not be in the normal range.
Low hemoglobin levels may be a sign of:
- Different types of anemia
- Thalassemia
- Iron deficiency
- Liver disease
- Cancer and other diseases
High hemoglobin levels may be a sign of:
- Lung disease
- Heart disease
- Polycythemia vera, a disorder in which your body makes too many red blood cells. It can cause headaches, fatigue, and shortness of breath.
If any of your levels are abnormal, it doesn't always mean you have a medical condition that needs treatment. Diet, activity level, medicines, a menstrual period, and other factors can affect the results. You may also have higher than normal hemoglobin levels if you live in a high altitude area. Talk with your provider to learn what your results mean.
1. Hemoglobin Test: MedlinePlus Medical Test [accessed on Jan 20, 2024]
2. Hemoglobin: MedlinePlus Medical Encyclopedia [accessed on Jan 20, 2024]
3. Hemoglobin - Health Encyclopedia - University of Rochester Medical Center [accessed on Jan 20, 2024]

Normal reference ranges can vary depending on the laboratory and the method used for testing. You must use the range supplied by the laboratory that performed your test to evaluate whether your results are "within normal limits."

Additional Materials (16)

Hemoglobin | Human anatomy and physiology | Health & Medicine | Khan Academy

Video by Khan Academy/YouTube

Blood, Part 2 - There Will Be Blood: Crash Course A&P #30

Video by CrashCourse/YouTube

Haemoglobin

Video by Wellcome Trust/YouTube

Hemoglobin A1c & Diabetes

Video by DiabeTV/YouTube

Hemoglobin Molecule

Molecule of hemoglobin.

Image by TheVisualMD

Hemoglobin A1C Molecule

Hemoglobin is a protein found inside red blood cells that carries oxygen from the lungs to cells throughout the body. Hemoglobin also binds with glucose. Diabetics have too much glucose in the bloodstream and this extra glucose binds (or glycates) with hemoglobin. Glycated hemoglobin usually stays glycated for the life of the red blood cell (about 3 months). Therefore, the percentage of hemoglobin that is glycated (measured as A1C) reflects glucose levels that have affected red blood cells up to 3 months in the past. The hemoglobin A1C test measures the percentage of hemoglobin bound to blood sugar (glucose); the test is used to diagnose type 1 and type 2 diabetes. Because the test results reflect average blood sugar levels over a period of 2-3 months (rather than daily fluctuations), the hemoglobin A1C test is also used to gauge how well patients are managing their diabetes over time.

Image by TheVisualMD

Hemoglobin A1C: Red Blood Cells

Red blood cells use the iron-rich protein hemoglobin to carry oxygen from the lungs to cells throughout the body and return carbon dioxide to the lungs. The percentage of hemoglobin bound to blood glucose (hemoglobin A1C) is used to diagnose diabetes.

Image by TheVisualMD

Hemoglobin of Red Blood Cell

Hemoglobin is an iron-containing protein found in red blood cells that binds oxygen and carbon dioxide for transport and delivery to different parts of the body.

Image by TheVisualMD

Hemoglobin Molecule

Hemoglobin is an iron-rich protein that is packed inside RBCs. It is a structurally complex molecule that can change shape to either hold or release oxygen, depending on the body's need. There are close to 300 million hemoglobin molecules within each RBC.

Image by TheVisualMD

Hemoglobin Molecule Heme Group

A heme group in a hemoglobin molecule consists of an iron atom bound equally to four nitrogen atoms, all lying in one plane. The iron atom is the site of oxygen binding.

Image by TheVisualMD

This browser does not support the video element.

Hemoglobin Within Red Blood Cell (RBC)

A red blood cell rushes toward the camera, the camera enters the cell to focus on all of the hemoglobin molecules within

Video by TheVisualMD

Hemoglobin, Carbon Monoxide

Hemoglobin is an iron-containing protein that enables red blood cells to deliver oxygen from the lungs to cells throughout the body. But the same binding site on the hemoglobin molecule has an even stronger affinity for carbon monoxide, which is why we are so susceptible to poisoning by this deadly gas; carbon monoxide grabs all the binding sites and starves the body's tissues of oxygen

Image by TheVisualMD

This browser does not support the video element.

Hemoglobin A1c

The hemoglobin A1c test measures the percentage of hemoglobin bound to blood sugar (glucose); the test is used to diagnose type 1 and type 2 diabetes. Because the test results reflect average blood sugar levels over a period of 2-3 months (rather than daily fluctuations), the hemoglobin A1C test is also used to gauge how well patients are managing their diabetes over time.

Video by TheVisualMD

Hemoglobin A1c

The hemoglobin A1c test measures the percentage of hemoglobin bound to blood sugar (glucose); the test is used to diagnose type 1 and type 2 diabetes. Because the test results reflect average blood sugar levels over a period of 2-3 months (rather than daily fluctuations), the hemoglobin A1C test is also used to gauge how well patients are managing their diabetes over time.

Image by TheVisualMD

Hemoglobin: O2 Binding Hemoglobin

Hemoglobin normally binds to life-sustaining oxygen. But the same binding site on the hemoglobin molecule has an even stronger affinity for carbon monoxide, which is why we are so susceptible to poisoning by this deadly gas.

Image by TheVisualMD

HemoglobinA1C

Hemoglobin Test for O2 Binding Hemoglobin : A hemoglobin test is a measurement of your blood's oxygen-carrying capacity. High levels of hemoglobin can be the result of dehydration, lung disease and other conditions. Low levels of hemoglobin indicate that there is a shortage of red blood cells; this can be the result of RBCs being lost or destroyed too quickly or produced too slowly. Hemoglobin is an iron-containing protein that enables red blood cells to deliver oxygen from the lungs to cells throughout the body. But the same binding site on the hemoglobin molecule has an even stronger affinity for carbon monoxide, which is why we are so susceptible to poisoning by this deadly gas; carbon monoxide grabs all the binding sites and starves the body's tissues of oxygen.

Image by TheVisualMD

14:34

Hemoglobin | Human anatomy and physiology | Health & Medicine | Khan Academy

Khan Academy/YouTube

10:01

Blood, Part 2 - There Will Be Blood: Crash Course A&P #30

CrashCourse/YouTube

5:31

Haemoglobin

Wellcome Trust/YouTube

1:43

Hemoglobin A1c & Diabetes

DiabeTV/YouTube

Hemoglobin Molecule

TheVisualMD

Hemoglobin A1C Molecule

TheVisualMD

Hemoglobin A1C: Red Blood Cells

TheVisualMD

Hemoglobin of Red Blood Cell

TheVisualMD

Hemoglobin Molecule

TheVisualMD

Hemoglobin Molecule Heme Group

TheVisualMD

0:27

Hemoglobin Within Red Blood Cell (RBC)

TheVisualMD

Hemoglobin, Carbon Monoxide

TheVisualMD

0:27

Hemoglobin A1c

TheVisualMD

Hemoglobin A1c

TheVisualMD

Hemoglobin: O2 Binding Hemoglobin

TheVisualMD

HemoglobinA1C

TheVisualMD

Hematocrit

Hematocrit Blood Test

Also called: Hematrocit, HCT, Crit, Packed Cell Volume, PCV

Hematocrit is a blood test that measures how much of a person's blood is made up of red blood cells. Hematocrit levels that are too high or too low can be a sign of a blood disorder, dehydration, or other medical conditions that affect your blood.

Hematocrit Blood Test

Also called: Hematrocit, HCT, Crit, Packed Cell Volume, PCV

Hematocrit is a blood test that measures how much of a person's blood is made up of red blood cells. Hematocrit levels that are too high or too low can be a sign of a blood disorder, dehydration, or other medical conditions that affect your blood.

{"label":"Hematocrit reference range","scale":"lin","step":0.1,"hideunits":false,"items":[{"flag":"abnormal","label":{"short":"Low","long":"Low","orientation":"horizontal"},"values":{"min":0,"max":40.7},"text":"A hematocrit level below the normal range, meaning the person has too few red blood cells, is called anemia.","conditions":["Anemia","Bleeding","Bone marrow cancers and disorders","Chronic illness","Chronic kidney disease","Destruction of red blood cells (hemolysis)","Leukemia","Malnutrition","Too little iron, folate, vitamin B12, and vitamin B6 in the diet","Too much water in the body"]},{"flag":"normal","label":{"short":"Normal","long":"Normal","orientation":"horizontal"},"values":{"min":40.7,"max":50.3},"text":"Normal hematocrit levels vary based on age and race. In adults, normal levels for men range from 41%-50%. For women, the normal range is slightly lower: 36%-44%.","conditions":[]},{"flag":"abnormal","label":{"short":"High","long":"High","orientation":"horizontal"},"values":{"min":50.3,"max":100},"text":"A hematocrit level above the normal range, meaning too many red blood cells, may indicate polycythemia or erythrocytosis. High hematocrits can be seen in people living at high altitudes and in chronic smokers.","conditions":["Polycythemia vera","Congenital heart disease","Exposure to high altitude","Failure of the right side of the heart","Low levels of oxygen in the blood","Scarring or thickening of the lungs","Too little water in the body (dehydration)"]}],"units":[{"printSymbol":"%","code":"%","name":"percent"}],"value":45.5,"disclaimer":"Normal reference ranges can vary depending on the laboratory and the method used for testing. You must use the range supplied by the laboratory that performed your test to evaluate whether your results are \"within normal limits.\""}[{"abnormal":0},{"normal":0},{"abnormal":0}]
Use the slider below to see how your results affect your health.
%
40.7
50.3
Your result is Normal.
Normal hematocrit levels vary based on age and race. In adults, normal levels for men range from 41%-50%. For women, the normal range is slightly lower: 36%-44%.
Related conditions
Your health care provider may order a hematocrit test as part of your regular checkup or to monitor your health if you are being treated for cancer or have an ongoing health condition. Your provider may also order this test if you have symptoms of a red blood cell disorder, such as anemia or polycythemia:
Symptoms of anemia (too few red blood cells) may include:
- Shortness of breath
- Weakness or fatigue
- Headache
- Dizziness
- Arrhythmia (a problem with the rate or rhythm of your heartbeat)
Symptoms of polycythemia (too many red blood cells) may include:
- Headache
- Feeling light-headed or dizzy
- Shortness of breath
- Weakness or fatigue
- Skin symptoms such as itching after a shower or bath, burning, or a red face
- Heavy sweating, especially during sleep
- Blurred or double vision and blind spots
- Bleeding gums and heavy bleeding from small cuts
Your hematocrit test results are reported as a number. That number is the percentage of your blood that's made of red blood cells. For example, if your hematocrit test result is 42, it means that 42% of your blood is red blood cells and the rest is white blood cells, platelets, and blood plasma.
A hematocrit level that's lower than normal may be a sign that:
- Your body doesn't have enough red blood cells (anemia). There are many types of anemia that can be caused by different medical conditions.
- Your body is making too many white blood cells, which may be caused by:
  Bone marrow disease
  Certain cancers, including leukemia, lymphoma, multiple myeloma, or cancers that spread to the bone marrow from other parts of the body
A hematocrit level that's higher than normal may be a sign that:
- Your body is making too many red blood cells, which may be caused by:
  Lung disease
  Congenital heart disease
  Heart failure
  Polycythemia
- Your blood plasma level is too low, which may be caused by:
  Dehydration, the most common cause of a high hematocrit
  Shock
If your results are not in the normal range, it doesn't always mean that you have a medical condition that needs treatment. Living at high altitudes where there's less oxygen in the air may cause a high hematocrit. That's because your body responds to low oxygen levels by making more red blood cells so that you get the oxygen you need.
Pregnancy can cause a low hematocrit. That's because the body has more fluid than normal during pregnancy, which decreases the percentage that's made of red blood cells.
To learn what your test results mean, talk with your provider.
1. Hematocrit Test: MedlinePlus Medical Test [accessed on Jan 20, 2024]
2. Hematocrit: MedlinePlus Medical Encyclopedia [accessed on Jan 20, 2024]
3. Hematrocit Blood Test - Testing.com. Sep 13, 2022 [accessed on Jan 20, 2024]

Normal reference ranges can vary depending on the laboratory and the method used for testing. You must use the range supplied by the laboratory that performed your test to evaluate whether your results are "within normal limits."

Additional Materials (30)

This browser does not support the video element.

Complete Blood Count, and Baselining Your Health

Video Topics : Our lifeblood consists of many components and a complete blood count (CBC) includes measurements of the fundamental elements. The largest categories are red and white blood cells (RBCs and WBCs) and cell fragments called platelets, which play roles in blood clotting. There are 20-30 trillion red blood cells in the body of an adult, each with a lifespan of about 100 days (RBCs contain an iron-containing protein called hemoglobin that enables them to carry oxygen to tissues throughout the body and then return carbon dioxide to the lungs). WBCs are in the front lines in the body's ongoing fight against harmful viruses, bacteria and even fungus; when a pathogen enters the body, WBCs mobilize in a coordinated defense response to eliminate, neutralize or mark the invader for destruction. The liquid portion of blood is called plasma and it carries nutrients, electrolytes, waste products, and hormones.

Video by TheVisualMD

Vial of Centrifuged Blood

Blood is made up of red and white blood cell (as well as platelets), suspended in a liquid known as blood plasma. Plasma, which makes up 55% of our blood's volume, is a clear liquid (mainly water) that transports food molecules, hormones, waste as well as a wide range of dissolved chemicals. Red cells, which normally make up 40-50% of total blood volume, are produced continuously in our bone marrow at the rate of about 2-3 million cells per second. White cells make up a very small part of blood's volume-normally only about 1% in healthy people. This image shows two vials of centrifuged blood. The left vial shows healthy amount of red blood cells in female (36-44%) ; The right vial shows healthy amount of red blood cells in male (41-50%). The hematocrit (along with the hemoglobin test) is the central test to diagnosing anemia in that it indicates the amount of RBCs in the blood.

Image by TheVisualMD

Red Blood Cells, Bone Marrow

A skeleton may have a dry and lifeless Halloween image, but bone is actually dynamic, living tissue. Bone is not uniformly solid; within its interior is a network of cavities that house blood vessels and marrow. Bone marrow, particularly in larger bones, is where stem cells give rise to red blood cells (erythrocytes) as well as white blood cells (leukocytes) and blood clotting agents (platelets). As the source of blood cells, the bone marrow is critical to health. Disease or damage to bone marrow can result in either too many or too few blood cells.

Image by TheVisualMD

Anemia: Basic lab tests - hematocrit, hemoglobin, reticulocyte, MCV, morphology

Video by retic20/YouTube

Hematocrit Nursing Considerations, Normal Range, Nursing Care, Lab Values Nursing

Video by NURSINGcom/YouTube

Hematocrit, Dehydration

Blood is composed of cells (primarily red blood cells, but also white blood cells and cell fragments called platelets) along with a liquid portion known as plasma. The ratio of the volume of red blood cells to the volume of plasma is an important health indicator and is known as the hematocrit. The most common cause of a high hematocrit is dehydration, which is usually temporary and easily remedied by increasing fluid intake, thereby restores the balance between RBCs and blood plasma volume.

Image by TheVisualMD

Hematocrit, Anemia

Blood is composed of cells (primarily red blood cells, but also white blood cells and cell fragments called platelets) along with a liquid portion known as plasma. The ratio of the volume of red blood cells to the volume of plasma is an important health indicator and is known as the hematocrit. A low hematocrit usually indicates anemia, which occurs when red blood cells are being either destroyed too quickly or produced too slowly; with fewer red blood cells, less oxygen is delivered to body tissues.

Image by TheVisualMD

Vial of Blood for Hematocrit Test

This image is a vial of blood that has been centrifuged (and thus separated) to determine hematocrit. This vial shows, from top to bottom, 55% plasma, <1% white blood cells, <1% platelets , 45% red blood cells. Hematocrit measures how much of the blood, by volume, is taken up by RBCs. A normal range for hematocrit is 41 to 50 percent in men and 36 to 44 percent in women. In many cases, a reading below the normal range for hematocrit will lead to a diagnosis of CKD-related anemia.This other diagnostic test is the hemoglobin test, which measures the amount of hemoglobin molecules in the blood and is a good indicator of the body's ability to carry oxygen throughout the body.

Image by TheVisualMD

Hematocrit: Bone Marrow

Bone marrow produces about 2 million red blood cells (RBCs) a second to maintain a healthy hematocrit. Many conditions, including kidney disease, chemotherapy, and dietary deficiencies, can reduce RBC production, while others can result in too many RBCs.

Image by TheVisualMD

Hematocrit: Blood Cells

The hematocrit is another way to look at the health of red blood cells (RBCs). Blood is composed of cells (primarily RBCs) and a liquid portion called plasma. The proportions of RBCs and plasma must be kept in balance and this is what the hematocrit measures.

Image by TheVisualMD

Blood

Components of Blood : Blood is mostly made up of plasma and red and white blood cells. But it also contains many other substances as well, like platelets, hormones, nutrients such as glucose, and fats like cholesterol. Blood is the fluid of life, transporting oxygen from the lungs to body tissue and carbon dioxide from body tissue to the lungs.

Image by TheVisualMD

Hematocrit

Hematocrit Blood Vials : If you are at risk for cardiovascular disease, your doctor may order a cholesterol and triglyceride level test as well as a complete blood count (CBC). Abnormal results may be the first clue in determining risk of and in diagnosing cardiovascular disease.

Image by TheVisualMD

Blood Smear Showing Reduced Red Blood Cell Count

Individual blood cells were first detected and described in the 17th century. Later, red blood cells (RBCs) were counted manually from a blood smear, a thin film of blood prepared on a glass slide and examined under a microscope (blood analysis is now automated, though smears are still used to detect visible abnormalities and to check or confirm the results of other tests). Anemia results when there are too few RBCs in circulation because they are being destroyed too quickly or produced too slowly. Anemia can be temporary or long term and range from mild to severe. Folate (also known as vitamin B9) is necessary for red blood cell production and the prevention of anemia, as well as the metabolism of carbohydrates. But folate also plays key roles in the synthesis and maintenance of DNA and is especially important in cell division and growth in fetal development (deficiencies of the vitamin in pregnancy is a common cause of birth defects). Pernicious anemia is a disorder in which the body's loses its ability to utilize folate and vitamin B12.

Image by TheVisualMD

Blood Smear Showing Normal Red Blood Cell Count

Individual blood cells were first detected and described in the 17th century. Later, red blood cells were counted manually from a blood smear, a thin film of blood prepared on a glass slide and examined under a microscope. Blood analysis is now automated, though blood smears are still used to detect visible abnormalities and to check or confirm the results of other tests. There are normally between 4.2-5.8 million red blood cells per microliter (about a drop), which means there are 20-30 trillion red blood cells circulating through the body of an adult.

Image by TheVisualMD

This browser does not support the video element.

Red Blood Cells Carry Oxygen

This video focuses on one of the main components of blood, the red blood cell and its function to carry oxygen. The video begins with revealing the red blood cells and the heart that pumps the oxygenated blood to the rest of the body. Hemoglobin is the protein molecule found in these red blood cells that enable blood to transport oxygen. If the blood's capacity to transport oxygen to the tissues is reduced due to a decrease in the number of red blood cells, anemia may occur.

Video by TheVisualMD

Components of Blood

Components of Blood : Our blood is composed of many different components, the largest categories being red and white blood cells (blood-clotting platelets are another key component) and the liquid portion known as blood plasma. A Complete Blood Count (CBC) includes several of the most basic, yet important, measurements of these components.

Image by TheVisualMD

Blood and Related Conditions

Blood and Related Conditions : Anemia results when there are too few red blood cells circulating in the bloodstream to deliver adequate oxygen to body tissues. There are different types and causes of anemia, including malnutrition, chronic bleeding, and diseases that result in red blood cells either being destroyed too quickly or produced too slowly.

Image by TheVisualMD

Pellet of Lymphocyte Cells Created in the Centrifuge

This photograph shows Wendy Watford, Ph.D. holding a test tube containing isolated lymphocyte cells. The cells were spun in a centrifuge to create a pellet at the bottom of the test tube. The cells will be labeled with CFSE dye, which will stain the membranes of the cells. After culturing the cells for three days she will determine the number of cell divisions that have taken place by measuring the dilution of the CFSE dye. The purpose of the work is to measure the proliferation of lymphocytes under various conditions. The principal investigator for this work is John J. O’Shea, M.D., NIAMS Scientific Director.

Image by NIAMS/Photographer: Rhoda Baer

Red Blood Cells

Digital holographic microscopy (DHM) image of red blood cells.

Image by Egelberg (talk)

Test Tube

Between 5,000 and 8,000 blood serum, fecal, urine, viral and respiratory samples arrive six days a week from U.S. Air Force hospitals and clinics worldwide, as well as some other Department of Defense facilities, for analysis at the Epidemiology Laboratory Service, also known as the "Epi Lab" at the 711th Human Performance Wing’s United States Air Force School of Aerospace Medicine and Public Health at Wright Patterson AFB, Ohio.The lab is a Department of Defense reference laboratory offering clinical diagnostic, public health, and force health screening and testing. (U.S. Air Force photo by J.M. Eddins Jr.)

Image by U.S. Air Force photo by J.M. Eddins Jr.

Phlebotomy

This image was uploaded as part of Wiki Loves e-textbooks contest in Poland.

Image by Sean Michael Ragan

Red Blood Cells Carry Oxygen

This video focuses on one of the main components of blood, the red blood cell and its function to carry oxygen. The video begins with revealing the red blood cells and the heart that pumps the oxygenated blood to the rest of the body. Hemoglobin is the protein molecule found in these red blood cells that enable blood to transport oxygen. If the blood's capacity to transport oxygen to the tissues is reduced due to a decrease in the number of red blood cells, anemia may occur.

Image by TheVisualMD

Composition of Blood

Composition of Blood

Image by OpenStax College

Hematology | Hematocrit

Video by Ninja Nerd/YouTube

Erythrocyte indices (Hemoglobin, Hematocrit, MCV, MCH & MCHC) What Do These Lab Tests Mean?

Video by Medicosis Perfectionalis/YouTube

How to Interpret RBC Indices (e.g. hemoglobin vs. hematocrit, MCV, RDW)

Video by Strong Medicine/YouTube

Haematocrit or PCV

Video by LabsforLifeProject/YouTube

Packed cell volume/ Hematocrit

Video by Pathology Simplified/YouTube

Fetal hemoglobin and hematocrit | Human anatomy and physiology | Health & Medicine | Khan Academy

Video by khanacademymedicine/YouTube

Smoking, Hematocrit, & Fasting Erythropoietin Concentrations

Video by Mayo Proceedings/YouTube

2:12

Complete Blood Count, and Baselining Your Health

TheVisualMD

Vial of Centrifuged Blood

TheVisualMD

Red Blood Cells, Bone Marrow

TheVisualMD

4:32

Anemia: Basic lab tests - hematocrit, hemoglobin, reticulocyte, MCV, morphology

retic20/YouTube

4:40

Hematocrit Nursing Considerations, Normal Range, Nursing Care, Lab Values Nursing

NURSINGcom/YouTube

Hematocrit, Dehydration

TheVisualMD

Hematocrit, Anemia

TheVisualMD

Vial of Blood for Hematocrit Test

TheVisualMD

Hematocrit: Bone Marrow

TheVisualMD

Hematocrit: Blood Cells

TheVisualMD

Blood

TheVisualMD

Hematocrit

TheVisualMD

Blood Smear Showing Reduced Red Blood Cell Count

TheVisualMD

Blood Smear Showing Normal Red Blood Cell Count

TheVisualMD

0:53

Red Blood Cells Carry Oxygen

TheVisualMD

Components of Blood

TheVisualMD

Blood and Related Conditions

TheVisualMD

Pellet of Lymphocyte Cells Created in the Centrifuge

NIAMS/Photographer: Rhoda Baer

Red Blood Cells

Egelberg (talk)

Test Tube

U.S. Air Force photo by J.M. Eddins Jr.

Phlebotomy

Sean Michael Ragan

Red Blood Cells Carry Oxygen

TheVisualMD

Composition of Blood

OpenStax College

10:46

Hematology | Hematocrit

Ninja Nerd/YouTube

8:32

Erythrocyte indices (Hemoglobin, Hematocrit, MCV, MCH & MCHC) What Do These Lab Tests Mean?

Medicosis Perfectionalis/YouTube

7:06

How to Interpret RBC Indices (e.g. hemoglobin vs. hematocrit, MCV, RDW)

Strong Medicine/YouTube

6:14

Haematocrit or PCV

LabsforLifeProject/YouTube

9:16

Packed cell volume/ Hematocrit

Pathology Simplified/YouTube

14:32

Fetal hemoglobin and hematocrit | Human anatomy and physiology | Health & Medicine | Khan Academy

khanacademymedicine/YouTube

6:19

Smoking, Hematocrit, & Fasting Erythropoietin Concentrations

Mayo Proceedings/YouTube

MCV

MCV (Mean Corpuscular Volume) Test

Also called: MCV, MCV Blood Test, Mean Corpuscular Volume, Mean RBC Volume

A mean corpuscular volume (MCV) blood test measures the size of your red blood cells. If blood cells are too small or too large, it may indicate a blood disorder.

MCV (Mean Corpuscular Volume) Test

Also called: MCV, MCV Blood Test, Mean Corpuscular Volume, Mean RBC Volume

A mean corpuscular volume (MCV) blood test measures the size of your red blood cells. If blood cells are too small or too large, it may indicate a blood disorder.

{"label":"MCV reference range","scale":"lin","step":0.1,"hideunits":false,"items":[{"flag":"abnormal","label":{"short":"Low","long":"Low","orientation":"horizontal"},"values":{"min":0,"max":76},"text":"A low MCV indicates that the red blood cells are smaller than normal, or microcytic.","conditions":["Microcytic anemia","Iron-deficiency\u00a0anemia\u00a0or other types of anemia","Thalassemia"]},{"flag":"normal","label":{"short":"Normal","long":"Normal","orientation":"horizontal"},"values":{"min":76,"max":96},"text":"A normal MCV indicates that the red blood cells are normal average size, or normocytic. Normal results vary based on the laboratory and the method used.","conditions":[]},{"flag":"abnormal","label":{"short":"High","long":"High","orientation":"horizontal"},"values":{"min":96,"max":200},"text":"A high MCV indicates that the red blood cells are larger than normal, or macrocytic.","conditions":["Macrocytic anemia","Vitamin B12 deficiency","Folic acid deficiency","Liver disease","Hypothyroidism"]}],"units":[{"printSymbol":"fL","code":"fL","name":"femtoliter"}],"value":86,"disclaimer":"Normal reference ranges can vary depending on the laboratory and the method used for testing. You must use the range supplied by the laboratory that performed your test to evaluate whether your results are \"within normal limits.\""}[{"abnormal":0},{"normal":0},{"abnormal":0}]
Use the slider below to see how your results affect your health.
fL
76
96
Your result is Normal.
A normal MCV indicates that the red blood cells are normal average size, or normocytic. Normal results vary based on the laboratory and the method used.
Related conditions
Your health care provider may order a complete blood count, which includes an MCV test, as part of your regular checkup. You may also have the test if you have a chronic (long-lasting) condition that could lead to anemia or if you have the symptoms of anemia:
- Shortness of breath
- Weakness or fatigue
- Headache
- Dizziness
- Arrhythmia (a problem with the rate or rhythm of your heartbeat)
An MCV test alone cannot diagnose any disease. Your provider will use the results of your MCV, other test results, and your medical history to make a diagnosis.
If your results show that your red blood cells are smaller than normal, it may be a sign of:
- Certain types of anemia, including iron-deficiency anemia, the most common type
- Thalassemia, an uncommon genetic condition
If your results show that your red blood cells are larger than normal, it may be a sign of:
- Pernicious anemia, which may be caused by:
  A lack of vitamin B12
  A disease that affects your body's ability to use vitamin B12, such as certain autoimmune diseases, celiac disease, or Crohn's disease.
- Anemia caused by a lack of folic acid
- Liver disease
It's also possible to have anemia with a normal MCV. This may happen if anemia is caused by conditions, such as:
- A sudden loss of blood
- Kidney failure
- Aplastic anemia (uncommon)
If your MCV levels are not in the normal range, it doesn't always mean that you have a medical problem that needs treatment. Diet, activity level, medicines, a menstrual period, and other conditions can affect the test results. Talk with your health care provider to learn what your results mean.
1. MCV (Mean Corpuscular Volume): MedlinePlus Medical Test [accessed on Jan 20, 2024]

Normal reference ranges can vary depending on the laboratory and the method used for testing. You must use the range supplied by the laboratory that performed your test to evaluate whether your results are "within normal limits."

Additional Materials (22)

Microcytic, normocytic, and macrocytic anemias | NCLEX-RN | Khan Academy

Video by khanacademymedicine/YouTube

Non-megaloblastic Macrocytic Anemia

Video by Medicosis Perfectionalis/YouTube

Microcytic anemia | Hematologic System Diseases | NCLEX-RN | Khan Academy

Video by khanacademymedicine/YouTube

Living with and Managing Iron-Deficiency Anemia

Video by NHLBI/YouTube

Hemolytic Anemia

Video by DrER.tv/YouTube

Medical School - Anemia Made Easy

Video by iMedicalSchool/YouTube

Iron deficency anemia diagnosis | Hematologic System Diseases | NCLEX-RN | Khan Academy

Video by khanacademymedicine/YouTube

RBC Indices

Video by Pathology Simplified/YouTube

Anemia: Basic lab tests - hematocrit, hemoglobin, reticulocyte, MCV, morphology

Video by retic20/YouTube

WellnessFX: Red Blood Cell Indices Part 1 with Bryan Walsh

Video by WellnessFX/YouTube

WellnessFX: Red Blood Cell Indices Part 2 with Bryan Walsh

Video by WellnessFX/YouTube

Blood Brain Barrier Endothelium

The blood-brain barrier keeps potentially toxic substances from entering the brain. The semipermeable membrane formed by the tightly spaced cells of capillaries in this area selectively screens out large molecules, while permitting the transport of essential nutrients such as glucose. The endothelium is the cellular lining of the blood vessel and is made up of endothelial cells connected to one another by tight junctions. These are the strongest cell-to-cell adhesions in the body. Toxic materials being transported in the blood are too large to pass through these junctions and exit the blood. Therefore, the brain is protected from exposure to many harmful substances. The barrier is does not, however, prevent fat-soluble materials from entering the brain; this includes alcohol and nicotine.

Image by TheVisualMD

Normal Blood Glucose Levels in Capillary

This image depicts a healthy capillary with normal glucose (pink) and insulin (yellow) levels. Capillaries, the smallest blood vessels in your body, are where nutrients are transferred from blood to cells, and waste from cells to blood. The body's cells depend on sugar in the blood, which is derived from carbohydrates, for food and energy. Allowing for the innumerable differences among individuals, the threshold for a normal blood-sugar (glucose) level in healthy people is 100 mg/dL; that is, 100 milligrams of glucose per deciliter of blood. Lower-than-normal levels characterize hypoglycemia and higher than normal levels characterize hyperglycemia.

Image by TheVisualMD

Cross-Section of Healthy Capillary Blood Vessel with Normal Glucose and Insulin Levels

This image depicts a healthy capillary. Capillaries are the smallest blood vessels in your body and are where the transfer of nutrients from blood to cells and wastes from cells to the blood takes place.The cells of the body depend on sugar in the blood, derived from carbohydrates, for food and energy. Allowing for the innumerable differences among individuals, the threshold for a normal blood-sugar (glucose) level in healthy people is 100 mg/dL; that is, 100 milligrams of glucose per deciliter of blood. Lower-than-normal levels characterize hypoglycemia and higher than normal levels hyperglycemia.

Image by TheVisualMD

Blood Vessels in the Brain

The Blood Brain Barrier and Astrocytes type 1

Image by Ben Brahim Mohammed

Cross-Section of Damaged Capillary Blood Vessel with Very High Glucose and Insulin Levels

This image depicts an unhealthy, damaged capillary with very high levels of insulin and glucose. Capillaries, the smallest blood vessels in your body, are where nutrients are transferred from blood to cells, and waste from cells to the blood The body's cells depend on sugar (glucose) in the blood, which is derived from carbohydrates, for food and energy. Without insulin, glucose is not able to enter cells to be used as fuel. Allowing for the innumerable differences among individuals, the threshold for a normal blood-sugar (glucose) level in healthy people is 100 mg/dL; that is, 100 milligrams of glucose per deciliter of blood. Higher than normal levels lead to hyperglycemia. Hyperglycemia is the hallmark of prediabetes (between 100 and 125 mg/dL) and diabetes (126 mg/dL and higher). It is caused by either too little insulin being released by the pancreas or the body's inability to use insulin properly. Hyperglycemia leads to microangiopathy, marked by endothelial cell apoptosis (programmed cell death), accumulation of AGEs (advanced glycation end products), and thickening of the basement membrane, which can lead to development of lesions, vasoconstriction, and altered vessel function

Blood Components

This image highlights the vital components of blood: 55% plasma Plasma is the liquid river that transports every blood cell to its destination. Oxygen-carrying RBCs couldn't move through arteries, veins and capillaries without it. Even though it is a watery, almost clear fluid, plasma contains many important substances, including blood-clotting agents called platelets and protective proteins called antibodies which help us fight infection. When the clotting agents are removed from blood plasma, it is called serum, which is essential in many life-saving medical situations such as transplant surgery and trauma. <1% white blood cells (wbcs or leukocytes) Some leukocytes are produced in the bone marrow, while others are generated in lymph nodes scattered throughout the body. They are far less numerous than their sister RBCs, but leukocytes are the bedrock of the immune system and are the body's front line of defense. Different types of leukocytes fight infections in different ways. Some target bacterial or fungal infections, while others respond to parasitic threats or allergic reactions. <1% platelets Platelets perform the vital function of clotting blood at wound sites. They are small, even in comparison to the other cells of your blood, but they pack a wallop when it comes to healing a scrape or staunching a more serious wound. When you cut yourself shaving, platelets arrive on the scene like your personal emergency medical team, creating a natural bandage of clotted blood, which eventually forms a scab. 45% red blood cells rbcs or erythrocytes) RBCs are produced in the bone marrow and perform the fundamental task of delivering oxygen to all of the body's cells. The vial is an example of the hematocrit, one of many tests that make up the complete blood count (CBC). Hematocrit measures the volume of RBCs in your blood. A normal hematocrit reading for women is between 36 to 44 percent; for men it's 41 to 50 percent.

Image by TheVisualMD

Test Tube Containing Blood

Visualization of a test tube containing blood. Blood comprises of 55% plasma, 1% platelets and white blood cells, and 45% red blood cells.

Image by TheVisualMD

Blood Smear Showing Reduced Red Blood Cell Count

Individual blood cells were first detected and described in the 17th century. Later, red blood cells (RBCs) were counted manually from a blood smear, a thin film of blood prepared on a glass slide and examined under a microscope (blood analysis is now automated, though smears are still used to detect visible abnormalities and to check or confirm the results of other tests). Anemia results when there are too few RBCs in circulation because they are being destroyed too quickly or produced too slowly. Anemia can be temporary or long term and range from mild to severe. Folate (also known as vitamin B9) is necessary for red blood cell production and the prevention of anemia, as well as the metabolism of carbohydrates. But folate also plays key roles in the synthesis and maintenance of DNA and is especially important in cell division and growth in fetal development (deficiencies of the vitamin in pregnancy is a common cause of birth defects). Pernicious anemia is a disorder in which the body's loses its ability to utilize folate and vitamin B12.

Image by TheVisualMD

Red Blood Cell in Capillary

The cardiovascular system is vast network of arteries, veins and vessels that would extend 60,000 miles if stretched end-to-end. All but a tiny fraction of this vessel network is invisible to the naked eye. The smallest capillaries (from latin "hairlike") are so narrow that red blood cells must pass through in single file. Higher than normal blood iron levels have been linked to heart disease and the reason is believed to be the oxidative stress the excess iron places on the walls of the blood vessels. It is the biological counterpart of rust. There are 20-30 trillion red blood cells (RBCs) in an adult's body. The life span of RBCs, which are produced in bone marrow, is about 100 days, which means that 2 million die (and are replaced) each second, but in that short lifetime they can make 75,000 round trips between lungs, heart and tissues in the body.

Image by TheVisualMD

Kidney and Stem Cell Creating Red Blood Cell. B12 is critical for the creation of red blood cells.

We are used to thinking of our kidneys mostly as hardworking filters that rid our bodies of wastes and excess water. But the kidneys are also constantly monitoring and adjusting levels of key substances in the blood, depending on what the body needs. Specialized cells in the kidney that are very sensitive to low oxygen levels, for example, produce a hormone called erythropoietin (EPO), which in turn promotes the production of red blood cells in the bone marrow. The boost in red blood cells increases the oxygen-carrying capacity of the blood.

Image by TheVisualMD

Healthy Capillary Blood Vessel

Cross-section of Healthy Capillary Blood Vessel with Normal Glucose and Insulin Levels

Cross-Section of Damaged Capillary Blood Vessel with Very High Glucose and Insulin Levels

1

2

3

Healthy Capillary Blood Vessel and and Damaged Capillary Blood Vessel Caused by High Levels of Blood Glucose

1) Healthy Capillary Blood Vessel - This image depicts a healthy capillary. Capillaries are the smallest blood vessels in your body. They can be so thin in diameter that blood cells have to bend in order to pass through. Capillaries are where the transfer of nutrients from the blood to cells, and the transfer of waste from cells to blood, takes place. In a healthy body, the blood vessels are smooth and elastic. 2) Cross-Section of Healthy Capillary Blood Vessel with Normal Glucose and Insulin Levels - This image depicts a healthy capillary. The body's cells depend on sugar in the blood, which is derived from carbohydrates, for food and energy. Allowing for the innumerable differences among individuals, the threshold for a normal blood sugar (glucose, pink) level in healthy people is 100 mg/dL; that is, 100 milligrams of glucose per deciliter of blood. Lower-than-normal levels characterize hypoglycemia and higher-than-normal levels characterize hyperglycemia. Without insulin (yellow), glucose is not able to enter cells to be used as fuel. Because of this, healthy insulin levels are a key factor in keeping blood glucose levels normal. 3) Cross-Section of Damaged Capillary Blood Vessel with Very High Glucose and Insulin Levels - This image depicts an unhealthy, damaged capillary with very high levels of insulin and glucose. Higher than normal levels of blood glucose lead to hyperglycemia. Hyperglycemia is the hallmark of prediabetes (between 100 and 125 mg/dL) and diabetes (126 mg/dL and higher). It is caused by either too little insulin being released by the pancreas or the body's inability to use insulin properly. Hyperglycemia leads to microangiopathy, marked by endothelial cell apoptosis (programmed cell death), accumulation of AGEs (advanced glycation end products), and thickening of the basement membrane, which can lead to the development of lesions, vasoconstriction, and altered vessel function

Interactive by TheVisualMD

5:57

Microcytic, normocytic, and macrocytic anemias | NCLEX-RN | Khan Academy

khanacademymedicine/YouTube

4:39

Non-megaloblastic Macrocytic Anemia

Medicosis Perfectionalis/YouTube

9:42

Microcytic anemia | Hematologic System Diseases | NCLEX-RN | Khan Academy

khanacademymedicine/YouTube

3:56

Living with and Managing Iron-Deficiency Anemia

NHLBI/YouTube

3:24

Hemolytic Anemia

DrER.tv/YouTube

3:16

Medical School - Anemia Made Easy

iMedicalSchool/YouTube

9:54

Iron deficency anemia diagnosis | Hematologic System Diseases | NCLEX-RN | Khan Academy

khanacademymedicine/YouTube

9:02

RBC Indices

Pathology Simplified/YouTube

4:32

Anemia: Basic lab tests - hematocrit, hemoglobin, reticulocyte, MCV, morphology

retic20/YouTube

33:35

WellnessFX: Red Blood Cell Indices Part 1 with Bryan Walsh

WellnessFX/YouTube

28:05

WellnessFX: Red Blood Cell Indices Part 2 with Bryan Walsh

WellnessFX/YouTube

Blood Brain Barrier Endothelium

TheVisualMD

Normal Blood Glucose Levels in Capillary

TheVisualMD

Cross-Section of Healthy Capillary Blood Vessel with Normal Glucose and Insulin Levels

TheVisualMD

Blood Vessels in the Brain

Ben Brahim Mohammed

Cross-Section of Damaged Capillary Blood Vessel with Very High Glucose and Insulin Levels

Blood Components

TheVisualMD

Test Tube Containing Blood

TheVisualMD

Blood Smear Showing Reduced Red Blood Cell Count

TheVisualMD

Red Blood Cell in Capillary

TheVisualMD

Kidney and Stem Cell Creating Red Blood Cell. B12 is critical for the creation of red blood cells.

TheVisualMD

Healthy Capillary Blood Vessel and and Damaged Capillary Blood Vessel Caused by High Levels of Blood Glucose

TheVisualMD

Bone Marrow Tests

Bone Marrow Tests

Also called: Bone Marrow Examination, Bone Marrow Aspiration and Biopsy

Bone marrow tests are used to diagnose and monitor bone marrow diseases, blood disorders, and certain types of cancer. There are two types of bone marrow tests: bone marrow aspiration and bone marrow biopsy, tests usually performed at the same time.

Bone Marrow Tests

Also called: Bone Marrow Examination, Bone Marrow Aspiration and Biopsy

Bone marrow tests are used to diagnose and monitor bone marrow diseases, blood disorders, and certain types of cancer. There are two types of bone marrow tests: bone marrow aspiration and bone marrow biopsy, tests usually performed at the same time.

{"label":"Bone marrow biopsy reference range","scale":"lin","step":0.25,"hideunits":true,"items":[{"flag":"negative","label":{"short":"Negative","long":"Negative","orientation":"horizontal"},"values":{"min":0,"max":1},"text":"A negative bone marrow biopsy results indicates that the bone marrow didn\u2019t have any significant findings with all of the testing that was done. This may mean that certain diseases were not found. It may also mean that the bone marrow is functioning normally.","conditions":[]},{"flag":"positive","label":{"short":"Postive","long":"Postive","orientation":"horizontal"},"values":{"min":1,"max":2},"text":"A positive bone marrow biopsy result means that there was something abnormal or concerning that was found in the bone marrow. Your doctor may want to begin treatment for cancer, a blood or bone marrow disorder, anemia, or whatever condition the test reveals you have.","conditions":["Amyloidosis","Aplastic anemia","Disseminated coccidioidomycosis","Hairy cell leukemia","Lymphoma","Multiple myeloma","Myelodysplastic syndrome","Myelofibrosis","Neuroblastoma","Polycythemia vera","Thrombocythemia","Waldenstr\u00f6m macroglobulinemia"]}],"value":0.5,"disclaimer":"Normal reference ranges can vary depending on the laboratory and the method used for testing. You must use the range supplied by the laboratory that performed your test to evaluate whether your results are \"within normal limits.\""}[{"negative":0},{"positive":0}]
Use the slider below to see how your results affect your health.
Your result is Negative.
A negative bone marrow biopsy results indicates that the bone marrow didn’t have any significant findings with all of the testing that was done. This may mean that certain diseases were not found. It may also mean that the bone marrow is functioning normally.
Related conditions
Bone marrow is a soft, spongy tissue found in the center of most bones. Bone marrow makes different types of blood cells, including:
- Red blood cells (also called erythrocytes), which carry oxygen from your lungs to every cell in your body
- White blood cells (also called leukocytes), which help you fight infections
- Platelets, which help with blood clotting
Bone marrow tests check to see if your bone marrow is working correctly and making normal amounts of blood cells. The tests can help diagnose and monitor bone marrow disorders, blood disorders, and certain types of cancer.
There are two types of procedures used to collect bone marrow samples for testing:
- Bone marrow aspiration removes a small amount of bone marrow fluid and cells
- Bone marrow biopsy removes a small piece of bone and bone marrow
Bone marrow aspiration and bone marrow biopsy are usually done at the same time.
Other names: bone marrow examination
Bone marrow tests are used to:
- Find out the cause of problems with red blood cells, white blood cells, or platelets
- Diagnose and monitor blood disorders, such as:
  Anemia (when the cause is unknown)
  Polycythemia vera
  Thrombocytopenia
- Diagnose bone marrow disorders
- Diagnose and monitor treatment for certain types of cancers, including leukemia, multiple myeloma, and lymphoma
- Diagnose the cause of an unexplained fever, which could be from an infection in the bone marrow
Bone marrow aspiration and bone marrow biopsy procedures are usually done at the same time. A health care provider will collect the marrow samples for testing. Usually, the samples can be collected in about ten minutes.
Before the procedure, you may be asked to put on a hospital gown. Your blood pressure, heart rate, and temperature will be checked.
You may choose to have a mild sedative, which is medicine to help you relax. You may also have the choice to use stronger medicine that will make you sleep. Your provider can help you decide which option is best for you.
During the procedure:
- You'll lie down on your side or your stomach, depending on which bone will be used to get the samples. Most bone marrow samples are taken from the back of the hip bone, called the iliac crest. But other bones may be used.
- An area of skin over the bone will be cleaned with an antiseptic.
- You will get an injection (shot) of medicine to numb the skin and the bone underneath. It may sting.
- When the area is numb, the provider will make a very small incision (cut) in your skin and insert a hollow needle. You will need to lie very still during the procedure:
  The bone marrow aspiration is usually done first. The provider will push the needle into the bone and use a syringe attached to the needle to pull out bone marrow fluid and cells. You may feel a brief, sharp pain. The aspiration takes only a few minutes.
  The bone marrow biopsy uses a special hollow biopsy needle inserted through the same skin opening. The provider will twist the needle into the bone to take out a small piece, or core, of bone marrow tissue. You may feel some pressure or brief pain while the sample is being taken.
- After the test, the health care provider will cover your skin with a bandage.
- If you didn't use medicine to relax or sleep, you'll usually need to stay lying down for about 15 minutes to make sure that the bleeding has stopped. Afterwards, you can do your usual activities as soon as you are able. If you used medicine to relax or sleep, you'll need to stay longer before you can go home. You may also need to rest the next day.
After a bone marrow aspiration and bone marrow biopsy you may feel stiff or sore where the sample was taken. This usually goes away in a few days.
Your provider may recommend or prescribe a pain reliever to help. Don't take any pain medicine your provider hasn't approved. Certain pain relievers, such as aspirin, could increase your risk of bleeding.
Serious symptoms are very rare, but may include:
- Increased pain or discomfort where the sample was taken
- Redness, swelling, bleeding, or other fluids leaking from at the site
- Fever
If you have any of these symptoms, call your provider.
It may take several days or even weeks to get your bone marrow test results. Your provider may have ordered many different types of tests on your marrow sample, so the results often include a lot of complex information. Your provider can explain what your results mean.
In certain cases, if your test results are not normal, you may need to have more tests to confirm a diagnosis or to decide which treatment would be best.
If you have cancer that affects your bones and marrow, your test results may provide information about your cancer stage, which is how much cancer you have in your body and how fast it may be growing.
If you are already being treated for cancer, your test results may show:
- How well your treatment is working
- Whether your treatment is affecting your bone marrow
1. Bone Marrow Tests: MedlinePlus Medical Test [accessed on Feb 16, 2024]

Additional Materials (22)

Bone marrow: location and labeled histology (preview) | Kenhub

Video by Kenhub - Learn Human Anatomy/YouTube

What to expect when you have a Bone Marrow Test | Cancer Research UK

Video by Cancer Research UK/YouTube

Having a bone marrow test

Video by Design Science/YouTube

Bone Marrow Transplant - Mayo Clinic

Video by Mayo Clinic/YouTube

Bone Marrow Diseases - What You Need To Know

Video by Rehealthify/YouTube

What Does Bone Marrow Actually Do?

Video by Seeker/YouTube

Aplastic Anemia-Bone Marrow

Image by doctorssupport.org

Bone Marrow Procedure Site

A 3D medical animation still showing preferred Sites for Bone Marrow Aspiration. The preferred sites for the procedure.

Image by Scientific Animations, Inc.

Image of a bone marrow harvest

Georgetown University Hospital, Washington, D.C. -- Surgeon Dr. Hans Janovich performs a bone marrow harvest operation on Aviation Electronics Technician 1st Class Michael Griffioen. The procedure consists of inserting a large-gauge syringe into an area of the hip and extracting the bone marrow. It is transfused into the recipient, and helps to recreate and replenish T-cells and the white and red blood cells killed while undergoing chemotherapy. Griffioen is assigned to the Pre-commissioning Unit Ronald Reagan (CVN 76) and was matched with an anonymous cancer patient through the Department of Defense Marrow Donor Program.

Image by Photographers Mate 2nd Class Chad McNeeley

Diagram showing the process of red blood cell production in the body with healthy and diseased kidneys. On the top half of the diagram, on the left side, a kidney labeled “Healthy kidney” starts the process by producing EPO. Six drops represent “Normal EPO.” An arrow beneath the EPO drops points from the kidney to a cross-section of a bone. Several cells labeled “Normal red blood cells” emerge from the bone marrow. Above the red blood cells, the label “Normal oxygen,” with three arrows pointing

Healthy kidneys produce a hormone called erythropoietin, or EPO, which stimulates the bone marrow to make red blood cells needed to carry oxygen throughout the body. Diseased kidneys don’t make enough EPO, and bone marrow then makes fewer red blood cells.

Image by NIDDK Image Library

Red Blood Cells, Bone Marrow

A skeleton may have a dry and lifeless Halloween image, but bone is actually dynamic, living tissue. Bone is not uniformly solid; within its interior is a network of cavities that house blood vessels and marrow. Bone marrow, particularly in larger bones, is where stem cells give rise to red blood cells (erythrocytes) as well as white blood cells (leukocytes) and blood clotting agents (platelets). As the source of blood cells, the bone marrow is critical to health. Disease or damage to bone marrow can result in either too many or too few blood cells.

Image by TheVisualMD

Erythropoiesis in Bone Marrow

Bone is dynamic, living tissue; within its interior is a network of cavities that house blood vessels and marrow. Bone marrow, particularly in larger bones, is where stem cells give rise to red blood cells (erythrocytes) as well as white blood cells (leukocytes) and blood clotting agents (platelets). Specialized cells in the kidney, which are sensitive to low oxygen levels, produce a hormone called erythropoietin (EPO), which in turn promotes the production of red blood cells. The boost in red blood cell production (erythropoiesis) in turn increases the oxygen-carrying capacity of the blood.

Image by TheVisualMD

Bone Marrow

Red bone marrow fills the head of the femur, and a spot of yellow bone marrow is visible in the center. The white reference bar is 1 cm.

Image by CNX Openstax

This browser does not support the video element.

Femur Bone Marrow Revealing Lacunae and Trabeculae

Camera descending into bone marrow dataset. Within the bone matrix that is shown one can see the spaces in the matrix which are called lacunae and the trabeculae which is a the mesh work of bone tissue

Video by TheVisualMD

Hematopoietic System of Bone Marrow

Hemopoiesis is the proliferation and differentiation of the formed elements of blood.

Image by CNX Openstax

Bone Marrow Biopsy

Bone Marrow Biopsy

Image by Blausen Medical Communications, Inc.

White Blood Cell Count: Bone

White blood cells (WBCs) and red blood cells (RBCs), as well as the cell fragments called platelets, are constantly being produced by bone marrow. Disease, cancer and genetic disorders of bone marrow can, in turn, affect the production of blood cells.

Image by TheVisualMD

Bone marrow core biopsy microscopy panorama

Section of bone marrow core biopsy as seen under the microscope.

Image by Gabriel Caponetti

Bone Marrow Biopsy

Bone Marrow Biopsy

Image by John Doe

Bone Marrow Biopsy

Diagram showing a bone marrow biopsy.

Image by Cancer Research UK / Wikimedia Commons

White Blood Cell Count: Bone Marrow

Disease or damage to the bone marrow, caused by infection, cancer, radiation treatment, or chemotherapy can lower white blood cell count by impairing the marrow's ability to produce new white blood cells.

Image by TheVisualMD

Sensitive content

This media may include sensitive content

Blood Cells

This is a scanning electron microscope image from normal circulating human blood. One can see red blood cells, several white blood cells including lymphocytes, amonocyte, a neutrophil, and many small disc-shaped platelets. Red cells are nonnucleated and contain hemoglobin, an important protein that contains iron and allows the cell to carry oxygen to other parts of the body. They also carry carbon dioxide away from peripheral tissue to the lungs where it can be exhaled. The infection-fighting white blood cells are classified in two main groups: granular and agranular. All blood cells are formed in the bone marrow. There are two types of agranulocytes: lymphocytes, which fight disease by producing antibodies and thus destroying foreign material, and monocytes. Platelets are tiny cells formed in bone marrow and are necessary for blood clotting.

Image by Bruce Wetzel (photographer). Harry Schaefer (photographer), National Cancer Institute

3:24

Bone marrow: location and labeled histology (preview) | Kenhub

Kenhub - Learn Human Anatomy/YouTube

2:12

What to expect when you have a Bone Marrow Test | Cancer Research UK

Cancer Research UK/YouTube

5:56

Having a bone marrow test

Design Science/YouTube

2:20

Bone Marrow Transplant - Mayo Clinic

Mayo Clinic/YouTube

1:38

Bone Marrow Diseases - What You Need To Know

Rehealthify/YouTube

4:03

What Does Bone Marrow Actually Do?

Seeker/YouTube

Aplastic Anemia-Bone Marrow

doctorssupport.org

Bone Marrow Procedure Site

Scientific Animations, Inc.

Image of a bone marrow harvest

Photographers Mate 2nd Class Chad McNeeley

Diagram showing the process of red blood cell production in the body with healthy and diseased kidneys. On the top half of the diagram, on the left side, a kidney labeled “Healthy kidney” starts the process by producing EPO. Six drops represent “Normal EPO.” An arrow beneath the EPO drops points from the kidney to a cross-section of a bone. Several cells labeled “Normal red blood cells” emerge from the bone marrow. Above the red blood cells, the label “Normal oxygen,” with three arrows pointing

NIDDK Image Library

Red Blood Cells, Bone Marrow

TheVisualMD

Erythropoiesis in Bone Marrow

TheVisualMD

Bone Marrow

CNX Openstax

0:06

Femur Bone Marrow Revealing Lacunae and Trabeculae

TheVisualMD

Hematopoietic System of Bone Marrow

CNX Openstax

Bone Marrow Biopsy

Blausen Medical Communications, Inc.

White Blood Cell Count: Bone

TheVisualMD

Bone marrow core biopsy microscopy panorama

Gabriel Caponetti

Bone Marrow Biopsy

John Doe

Bone Marrow Biopsy

Cancer Research UK / Wikimedia Commons

White Blood Cell Count: Bone Marrow

TheVisualMD

Sensitive content

This media may include sensitive content

Blood Cells

Bruce Wetzel (photographer). Harry Schaefer (photographer), National Cancer Institute

Reticulocyte Count

Reticulocyte Count

Also called: Retic Count, Reticulocyte Percent, Reticulocyte Index, Corrected Reticulocyte, Reticulocyte Production Index, RPI

A reticulocyte count measures the number of reticulocytes in the blood. Reticulocytes are red blood cells that are still developing. They are made in the bone marrow and sent into the bloodstream. If the count is too high or too low, it can indicate anemia or other health problems.

Reticulocyte Count

Also called: Retic Count, Reticulocyte Percent, Reticulocyte Index, Corrected Reticulocyte, Reticulocyte Production Index, RPI

A reticulocyte count measures the number of reticulocytes in the blood. Reticulocytes are red blood cells that are still developing. They are made in the bone marrow and sent into the bloodstream. If the count is too high or too low, it can indicate anemia or other health problems.

{"label":"Reticulocyte count reference range","scale":"lin","step":0.1,"hideunits":false,"items":[{"flag":"abnormal","label":{"short":"Low","long":"Low","orientation":"horizontal"},"values":{"min":0,"max":25},"text":"A low reticulocyte count indicates that your bone marrow is not producing an adequate amount of new red blood cells.","conditions":["Bone marrow disorder\u00a0","Aplastic anemia","Cirrhosis of the liver","Kidney disease","Radiation or chemotherapy treatment","Low erythropoietin level","Nutritional deficiencies"]},{"flag":"normal","label":{"short":"Normal","long":"Normal","orientation":"horizontal"},"values":{"min":25,"max":75},"text":"A reticulocyte count (number or percentage) is a reflection of recent bone marrow activity.","conditions":[]},{"flag":"abnormal","label":{"short":"High","long":"High","orientation":"horizontal"},"values":{"min":75,"max":150},"text":"An elevated reticulocyte count indicates that your bone marrow is producing more red blood cells than usual.","conditions":["Acute\u00a0or\u00a0chronic\u00a0hemorrhage","Hemolysis","Polycythemia Vera","Cigarette smoking","Pregnancy"]}],"units":[{"printSymbol":"(10³)\/\u03bcL","code":"10*3\/uL","name":"thousand per microliter"}],"value":50,"disclaimer":"Normal reference ranges can vary depending on the laboratory and the method used for testing. You must use the range supplied by the laboratory that performed your test to evaluate whether your results are \"within normal limits.\""}[{"abnormal":0},{"normal":0},{"abnormal":0}]
Use the slider below to see how your results affect your health.
(10³)/μL
25
75
Your result is Normal.
A reticulocyte count (number or percentage) is a reflection of recent bone marrow activity.
Related conditions
{"label":"Reticulocytes reference range","scale":"lin","step":0.1,"hideunits":false,"items":[{"flag":"abnormal","label":{"short":"Low","long":"Low","orientation":"horizontal"},"values":{"min":0,"max":0.5},"text":"A low reticulocyte count indicates that your bone marrow is not producing an adequate amount of new red blood cells.","conditions":["Bone marrow disorder\u00a0","Aplastic anemia","Cirrhosis of the liver","Kidney disease","Radiation or chemotherapy treatment","Low erythropoietin level","Nutritional deficiencies"]},{"flag":"normal","label":{"short":"Normal","long":"Normal","orientation":"horizontal"},"values":{"min":0.5,"max":2.5},"text":"A reticulocyte count (number or percentage) is a reflection of recent bone marrow activity.","conditions":[]},{"flag":"abnormal","label":{"short":"High","long":"High","orientation":"horizontal"},"values":{"min":2.5,"max":5},"text":"An elevated reticulocyte count indicates that your bone marrow is producing more red blood cells than usual.","conditions":["Acute\u00a0or\u00a0chronic\u00a0hemorrhage","Hemolysis","Polycythemia vera","Cigarette smoking","Pregnancy"]}],"units":[{"printSymbol":"%","code":"%","name":"percent"}],"value":1.5,"disclaimer":"Normal reference ranges can vary depending on the laboratory and the method used for testing. You must use the range supplied by the laboratory that performed your test to evaluate whether your results are \"within normal limits.\""}[{"abnormal":0},{"normal":0},{"abnormal":0}]
Use the slider below to see how your results affect your health.
%
0.5
2.5
Your result is Normal.
A reticulocyte count (number or percentage) is a reflection of recent bone marrow activity.
Related conditions
A reticulocyte count is most often used to:
- Diagnose specific types of anemia. Anemia is a condition in which your blood has a lower than normal amount of red blood cells. There are several different forms and causes of anemia.
- See if treatment for anemia is working
- See if bone marrow is producing the right amount of blood cells
- Check bone marrow function after chemotherapy or a bone marrow transplant
You may need this test if:
- Other blood tests show your red blood cell levels are not normal. These tests may include a complete blood count, hemoglobin test, and/or hematocrit test.
- You are being treated with radiation or chemotherapy
- You recently received a bone marrow transplant
You may also need this test if you have symptoms of anemia. These include:
- Fatigue
- Weakness
- Shortness of breath
- Pale skin
- Cold hands and/or feet
Sometimes new babies are tested for a condition called hemolytic disease of the newborn. This condition happens when a mother's blood is not compatible with her unborn baby. This is known as Rh incompatibility. It causes the mother's immune system to attack the baby's red blood cells. Most pregnant women are tested for Rh incompatibility as part of routine prenatal screening.
If your results show a higher than normal amount of reticulocytes (reticulocytosis), it may mean:
- You have hemolytic anemia, a type of anemia in which red blood cells are destroyed faster than the bone marrow can replace them.
- Your baby has hemolytic disease of the newborn, a condition that limits the ability of a baby's blood to carry oxygen to organs and tissues.
If your results show a lower than normal amount of reticulocytes, it may mean you have:
- Iron deficiency anemia, a type of anemia that happens when you don't have enough iron in your body.
- Pernicious anemia, a type of anemia caused by not getting enough of certain B vitamins (B12 and folate) in your diet, or when your body can't absorb enough B vitamins.
- Aplastic anemia, a type of anemia that happens when the bone marrow isn't able to make enough blood cells.
- Bone marrow failure, which may be caused by an infection or cancer.
- Kidney disease
- Cirrhosis, scarring of the liver
These test results are often compared with results of other blood tests. If you have questions about your results or your child's results, talk to your health care provider.
1. Reticulocyte Count: MedlinePlus Medical Test [accessed on Jan 22, 2024]
2. Reticulocyte count: MedlinePlus Medical Encyclopedia [accessed on Jan 22, 2024]
3. Reticulocyte Count Test - Testing.com. Dec 21, 2022 [accessed on Jan 22, 2024]

Normal reference ranges can vary depending on the laboratory and the method used for testing. You must use the range supplied by the laboratory that performed your test to evaluate whether your results are "within normal limits."

Additional Materials (8)

Reticulocyte Count, Hemorrhage/Chronic Blood Loss

Reticulocytes are immature red blood cells (RBCs) released into the bloodstream from the bone marrow in which they developed. Normally, only a tiny percentage red blood cells circulating in the bloodstream are reticulocytes. The reticulocyte count rises, however, when bone marrow is called upon to produce more RBCs, in conditions such as heavy bleeding or certain types of anemia.

Image by TheVisualMD

Hematopoeisis Diagram

Many cells can result from one stem cell. Because division can occur at different stages of the cell's development, a single cell has the potential to become eight to 32 RBCs.

Image by TheVisualMD

Red Blood Cell Development

This video explains red blood cell development, following a pluripotent stem cell to red blood cell.

Image by TheVisualMD

Red Blood Cell Production

Red blood cell production or erythropoiesis is the process by which red blood cells are formed.

Image by TheVisualMD

This browser does not support the video element.

Reticulocyte

An animation of the fifth stage in red blood cell maturation. This is the reticulocyte stage where hemoglobin synthesis is completed and it is released into the blood stream. Here the reticulocyte contain reticular networks of polyribosomes which appear as groups of small violet granules. The reticulocyte is semi-transparent and appears more magnenta than in the previous stages. Its edges also loose focus as the camera pans around it. The macrophage is a violet color contrasting a pink reticulocyte and environment mimicking the colors of a histology stained in hematoxylin and eosin (or H&E stain).

Video by TheVisualMD

This browser does not support the video element.

Red Blood Cell Development

This video explains red blood cell development, following a pluripotent stem cell to red blood cell.

Video by TheVisualMD

This browser does not support the video element.

Red Blood Cell Production

Red blood cell production or erythropoiesis is the process by which red blood cells are formed.

Video by TheVisualMD

Anemia: Basic lab tests - hematocrit, hemoglobin, reticulocyte, MCV, morphology

Video by retic20/YouTube

Reticulocyte Count, Hemorrhage/Chronic Blood Loss

TheVisualMD

Hematopoeisis Diagram

TheVisualMD

Red Blood Cell Development

TheVisualMD

Red Blood Cell Production

TheVisualMD

0:19

Reticulocyte

TheVisualMD

0:31

Red Blood Cell Development

TheVisualMD

5:22

Red Blood Cell Production

TheVisualMD

4:32

Anemia: Basic lab tests - hematocrit, hemoglobin, reticulocyte, MCV, morphology

retic20/YouTube

Treatment

Who Needs a Blood and Marrow Stem Cell Transplant?

Image by beat_ranger

Who Needs a Blood and Marrow Stem Cell Transplant?

The picture shows a bone marrow transplantation.

Image by beat_ranger

How Is Fanconi Anemia Treated?

Doctors decide how to treat Fanconi anemia (FA) based on a person's age and how well the person's bone marrow is making new blood cells.

Goals of Treatment

Long-term treatments for FA can:

Cure the anemia. Damaged bone marrow cells are replaced with healthy ones that can make enough of all three types of blood cells on their own.

—Or—

Treat the symptoms without curing the cause. This is done using medicines and other substances that can help your body make more blood cells for a limited time.

Screening and Short-Term Treatment

Even if you or your child has FA, your bone marrow might still be able to make enough new blood cells. If so, your doctor might suggest frequent blood count checks so he or she can watch your condition.

Your doctor will probably want you to have bone marrow tests once a year. He or she also will screen you for any signs of cancer or tumors.

If your blood counts begin to drop sharply and stay low, your bone marrow might be failing. Your doctor may prescribe antibiotics to help your body fight infections. In the short term, he or she also may want to give you blood transfusions to increase your blood cell counts to normal levels.

However, long-term use of blood transfusions can reduce the chance that other treatments will work.

Long-Term Treatment

The four main types of long-term treatment for FA are:

Blood and marrow stem cell transplant
Androgen therapy
Synthetic growth factors
Gene therapy

Blood and Marrow Stem Cell Transplant

A blood and marrow stem cell transplant is the current standard treatment for patients who have FA that's causing major bone marrow failure. Healthy stem cells from another person, called a donor, are used to replace the faulty cells in your bone marrow.

If you're going to receive stem cells from another person, your doctor will want to find a donor whose stem cells match yours as closely as possible.

Stem cell transplants are most successful in younger people who:

Have few or no serious health problems
Receive stem cells from a brother or sister who is a good donor match
Have had few or no previous blood transfusions

During the transplant, you'll get donated stem cells in a procedure that's like a blood transfusion. Once the new stem cells are in your body, they travel to your bone marrow and begin making new blood cells.

A successful stem cell transplant will allow your body to make enough of all three types of blood cells.

Even if you've had a stem cell transplant to treat FA, you’re still at risk for some types of blood cancer and cancerous solid tumors. Your doctor will check your health regularly after the procedure.

Androgen Therapy

Before improvements made stem cell transplants more effective, androgen therapy was the standard treatment for people who had FA. Androgens are man-made male hormones that can help your body make more blood cells for long periods.

Androgens increase your red blood cell and platelet counts. They don't work as well at raising your white blood cell count.

Unlike a stem cell transplant, androgens don't allow your bone marrow to make enough of all three types of blood cells on its own. You may need ongoing treatment with androgens to control the effects of FA.

Also, over time, androgens lose their ability to help your body make more blood cells, which means you'll need other treatments.

Androgen therapy can have serious side effects, such as liver disease. This treatment also can't prevent you from developing leukemia (a type of blood cancer).

Synthetic Growth Factors

Your doctor may choose to treat your FA with growth factors. These are substances found in your body, but they also can be man-made.

Growth factors help your body make more red and white blood cells. Growth factors that help your body make more platelets still are being studied.

More research is needed on growth factor treatment for FA. Early results suggest that growth factors may have fewer and less serious side effects than androgens.

Gene Therapy

Researchers are looking for ways to replace faulty FA genes with normal, healthy genes. They hope these genes will make proteins that can repair and protect your bone marrow cells. Early results of this therapy hold promise, but more research is needed.

Surgery

FA can cause birth defects that affect the arms, thumbs, hips, legs, and other parts of the body. Doctors may recommend surgery to repair some defects.

For example, your child might be born with a ventricular septal defect—a hole or defect in the wall that separates the lower chambers of the heart. His or her doctor may recommend surgery to close the hole so the heart can work properly.

Children who have FA also may need surgery to correct digestive system problems that can harm their nutrition, growth, and survival.

One of the most common problems is an FA-related birth defect in which the trachea (windpipe), which carries air to the lungs, is connected to the esophagus, which carries food to the stomach.

This can cause serious breathing, swallowing, and eating problems and can lead to lung infections. Surgery is needed to separate the two organs and allow normal eating and breathing.

Source: National Heart, Lung, and Blood Institute (NHLBI)

Additional Materials (3)

What To Expect Before a Blood and Marrow Stem Cell Transplant

Georgetown University Hospital, Washington, D.C. (Dec. 4, 2002) - Surgical technician Amina Sherali places recently transfused bone marrow from Aviation Electronics Technician 1st Class Michael Griffioen into a sterile bag in preparation for transplant. To determine the amount of marrow needed from each donor, a sample is taken during the operation and T-cells are counted. The level of T-cells and the body size of the recipient determine the amount of bone marrow to be harvested. Griffioen is assigned to Precommissioning Unit Ronald Reagan and was matched with an anonymous cancer patient through the Department of Defense Marrow Donor Program. Griffioen chose to donate his bone marrow after participating in a donor drive nine years ago while stationed aboard USS George Washington.

Image by U.S. Navy photo by Photographer's Mate 2nd Class Chad McNeeley.

Fanconi Anemia - Therapy

Video by FANCanemia/YouTube

Bone marrow Transplant

1. Needle is inserted into the upper leg, through the skin and into the Medullary Cavity, where the red marrow is stored and harvested 2. Stem cells from the marrow are then concentrated and prepared for freezing in a laboratory. 3. Patient undergoes chemotherapy to rid the body of any harmful viruses, bacteria or cancer cells.4. Patient is infused with the Donor's blood which contains the stem cells.

Image by Mugwump12

What To Expect Before a Blood and Marrow Stem Cell Transplant

U.S. Navy photo by Photographer's Mate 2nd Class Chad McNeeley.

3:38

Fanconi Anemia - Therapy

FANCanemia/YouTube

Bone marrow Transplant

Mugwump12

Prevention

Genetic counseling

Image by Sangharsh Lohakare/Unsplash

Genetic counseling

Individuals or families who are concerned about an inherited condition may benefit from a genetic consultation.

Image by Sangharsh Lohakare/Unsplash

How Can Fanconi Anemia Be Prevented?

You can't prevent Fanconi anemia (FA) because it's an inherited disease. If a child gets two copies of the same faulty FA gene, he or she will have the disease.

If you're at high risk for FA and are planning to have children, you may want to consider genetic counseling. A counselor can help you understand your risk of having a child who has FA. He or she also can explain the choices that are available to you.

If you're already pregnant, genetic testing can show whether your child has FA.

In the United States, Ashkenazi Jews (Jews of Eastern European descent) are at higher risk for FA than other ethnic groups. For Ashkenazi Jews, it's recommended that prospective parents get tested for FA-related gene mutations before getting pregnant.

Preventing Complications

If you or your child has FA, you can prevent some health problems related to the disorder. Pneumonia, hepatitis, and chicken pox can occur more often and more severely in people who have FA compared with those who don't. Ask your doctor about vaccines for these conditions.

People who have FA also are at higher risk than other people for some cancers. These cancers include leukemia (a type of blood cancer), myelodysplastic syndrome (abnormal levels of all three types of blood cells), and liver cancer. Screening and early detection can help manage these life-threatening diseases.

Source: National Heart, Lung, and Blood Institute (NHLBI)

Additional Materials (3)

Genetic counseling session

Genetic counseling session

Image by United States National Institutes for Health, Center for Hearing and Communication Disorders

Fanconi Anemia - Introduction

Video by FANCanemia/YouTube

Chromosome

Computer generated visualization of a chromosome. A chromosome is a coiled multiheaded structure that carries the genetic code. A healthy body cell has approximately 100,000 genes on 46 chromosomes arranged in 23 pairs.

Image by TheVisualMD

Genetic counseling session

United States National Institutes for Health, Center for Hearing and Communication Disorders

4:56

Fanconi Anemia - Introduction

FANCanemia/YouTube

Chromosome

TheVisualMD

Living with

Lincoln had a bone marrow transplant after being diagnosed with aplastic anemia

Image by Andrew Scheer

Lincoln had a bone marrow transplant after being diagnosed with aplastic anemia

I’m incredibly grateful for the donor who saved my nephew Lincoln’s life. Last year he had a bone marrow transplant after being diagnosed with aplastic anemia. Now, Lincoln has officially reached the one year mark since the transplant and is no longer on medication. Today, in honor of that gift that our family received, my wife Jill hosted an event on Parliament hill with Canadian Blood Services to encourage people to find out how to become a stem cell donor. Thank you to everyone who stopped by to get swabbed or supported us in raising awareness and finding more future donors.

Image by Andrew Scheer

Living With Fanconi Anemia

Improvements in blood and marrow stem cell transplants have increased the chances of living longer with FA. Also, researchers are studying new and promising treatments for FA. However, the disorder still presents serious challenges to patients and their families.

What To Expect

FA is a life-threatening illness. If you or your child is diagnosed with FA, you and your family members may feel shock, anger, grief, and depression. If you're the parent or grandparent of a child who has FA, you may blame yourself for causing the disease.

Your doctor will want to test all of your children for FA if one of your children is born with the disorder. If you're diagnosed with FA as an adult, your doctor may suggest testing your brothers and sisters for the disorder.

All of these things can create stress and anxiety for your entire family. Family counseling for FA may give you and other relatives important support, comfort, and advice.

One of the hardest issues to deal with is telling children that they have FA and what effect it will have on their lives.

Most FA support groups believe that parents need to give children information about the disorder in terms they can understand. These groups recommend answering questions honestly and directly, stressing the positive developments in treatment and survival.

If your child becomes upset or begins to act out after learning that he or she has FA, you may want to seek counseling.

Special Concerns and Needs

Many people who have FA survive to adulthood. If you have FA, you'll need ongoing medical care. Your blood counts will need to be checked regularly.

Even if you have a blood and marrow stem cell transplant, you remain at risk for many cancers. You'll need to be screened for cancer more often than people who don't have FA.

If FA has left you with a very low platelet count, your doctor may advise you to avoid contact sports and other activities that can lead to injuries.

If your child has FA, he or she may have problems eating or keeping food down. Your doctor may recommend additional, special feedings to support growth and good health.

Support Groups

You or your family members may find it helpful to know about resources that can give you emotional support and helpful information about FA and its treatments.

Your doctor or hospital social worker may have information about counseling and support services. They also may be able to refer you to support groups that offer help with financial planning (treatment for FA can be costly).

Source: National Heart, Lung, and Blood Institute (NHLBI)

Additional Materials (2)

Families Share Fanconi Anemia Stories

Video by Fanconi Anemia Research Fund/YouTube

DNA Strand

Major Depressive Disorder can "run in families". There is about two to three times the risk for Major Depressive Disorder in the first degree relatives of people with the disorder compared to people in the general population.7 Studies of the rates of Major Depressive Disorder among twins more directly addresses the role of genes in this illness. A number of studies have been done, and these suggest that 40% to 50% of the differences in whether or not individuals have clinical depression is a function of genetic factors.8 The size of the genetic contribution to risk for Major Depressive Disorder is in the range of that found for many other medical conditions such as high blood pressure and high serum cholesterol.

Image by TheVisualMD

10:32

Families Share Fanconi Anemia Stories

Fanconi Anemia Research Fund/YouTube

DNA Strand

TheVisualMD

Related HealthJournals

Genetic Testing

Genetic testing is a type of medical test that identifies changes in chromosomes, genes, or proteins. Over 2000 tests are available. Genetic testing may be done for many reasons, from newborn baby screening to diagnosing certain diseases. Read about why you might consider testing.

Bone Marrow Transplantation

Bone marrow transplantation replaces faulty bone marrow with healthy bone marrow from a donor. Learn about the possible risks, who needs it, and what to expect during the procedure.

Aplastic Anemia

Aplastic anemia is a rare but serious blood disorder. If you have it, your bone marrow doesn't make enough new blood cells. Read more on the causes, symptoms, and treatment options.

Thalassemia

Thalassemia is a red blood cell disorder that may cause a person to feel tired, weak, or short of breath (a condition called anemia) and can lead to organ damage and even death. There are two main types of thalassemia, alpha thalassemia and beta thalassemia. Learn about the types and treatments.

Anemia

If you have anemia, your blood doesn't carry enough oxygen to the rest of your body, which can make you feel tired, cold, dizzy, and irritable. Learn about the different causes of anemia, how to diagnose it, and the different treatments available.

Share and discuss

Share your story, discuss an issue or get
advice from the community

Create conversation

Sign up here for full access to StoryMD

Get free access to in-depth articles and track your personal health.

Create Free Account Sign In

Share with others

Send this HealthJournal to your friends or across your social medias.

Fanconi Anemia

Fanconi anemia (FA) is a type of aplastic anemia. It is a rare but serious blood disorder that prevents your bone marrow from making enough new blood cells for your body to work normally. FA leads to bone marrow failure, skeletal abnormalities, and an increased risk for cancer. Explore causes, symptoms, and treatments.

Copy Link