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Hemoglobin SC Disease

Table of Contents

Hemoglobin SC Disease

HbSC Disease; Hgb S-C Disease; SC Hemoglobinopathy; Hemoglobin Sickle C Disease; Sickle-Hemoglobin C Disease

Hemoglobin SC disease, is a type of sickle cell disease, which means it affects the shape of the red blood cells. It is characterized by the presence of both hemoglobin S and hemoglobin C. It is similar to, but less severe than sickle cell disease. Learn more about causes, screening and treatment.

Red Blood Cell and Hemoglobin

Image by TheVisualMD

Summary

Sickle cell disease (SCD)

Image by National Center for Advancing Translational Sciences (NCATS), National Institutes of Health

Sickle cell disease (SCD)

Sickle cell disease (SCD) is a genetic blood disorder that alters red blood cells. The disease affects millions worldwide and about 80,000 patients in the United States, in particular, one in every 500 African American births. A defect in hemoglobin (a protein that helps the cells carry oxygen through the body) causes red blood cells to become rigid and take on a crescent (sickle) shape, blocking small blood vessels and causing decreased blood flow, inflammation, pain and strokes in children. To date, the only drug approved by the Food and Drug Administration (FDA) to treat SCD is hydroxyurea, an anticancer drug that is indicated for use only in adults. Hydroxyurea is only moderately effective and has undesirable side effects that limit its use.

Image by National Center for Advancing Translational Sciences (NCATS), National Institutes of Health

What Is Hemoglobin SC Disease?

Hemoglobin SC disease is caused by mutations in the gene that tells our bodies how to make hemoglobin. These mutations cause changes in the shape of the red blood cells. People affected by hemoglobin SC disease need to be especially careful to avoid infection and should be checked regularly by doctors to make sure all of the organs in the body are functioning properly. In times when the anemia becomes severe, a person affected by hemoglobin SC disease may require a blood transfusion. A bone marrow transplant may also be recommended depending on the severity of the symptoms.

Source: Genetic and Rare Diseases (GARD) Information Center

Additional Materials (4)

Hemoglobin, Sickle

Magnified 8000X, this digitally colorized scanning electron microscopic (SEM) image revealed some of the ultrastructure displayed by red blood cells (RBCs) from a 6-year-old male patient that has sickle cell with hereditary persistence of fetal hemoglobin (S-HPFH). The persistent fetal hemoglobin reduces the severity of the consequences of the sickle cell disease, thereby, reducing the degree of cellular deformity, or sickling. Sickle cell disease encompasses a group of inherited RBC disorders. Healthy RBCs are round, and move smoothly through blood vessels. In sickle cell disease, the RBCs become hard, and sticky, and look like a C-shaped farm tool called a sickle. Sickle cells die early, which causes a constant shortage of RBCs. Also, when they travel through small blood vessels, they get stuck and clog the blood flow. This can cause pain and other serious problems.

Image by CDC/ Sickle Cell Foundation of Georgia: Jackie George, Beverly Sinclair; Photo credit: Janice Haney Carr

Hemoglobin, Sickle

Magnified 3500X, this digitally colorized scanning electron microscopic (SEM) image revealed some of the ultrastructure displayed by red blood cells (RBCs) from a 6-year-old male patient that has sickle cell with hereditary persistence of fetal hemoglobin (S-HPFH). The persistent fetal hemoglobin reduces the severity of the consequences of the sickle cell disease, thereby, reducing the degree of cellular deformity, or sickling. Sickle cell disease encompasses a group of inherited RBC disorders. Healthy RBCs are round, and move smoothly through blood vessels. In sickle cell disease, the RBCs become hard, and sticky, and look like a C-shaped farm tool called a sickle. The sickle cells die early, which causes a constant shortage of RBCs. Also, when they travel through small blood vessels, they get stuck and clog the blood flow. This can cause pain and other serious problems.

Image by CDC/ Sickle Cell Foundation of Georgia: Jackie George, Beverly Sinclair; Photo credit: Janice Haney Carr

Hemoglobin SC Crystals

Hemoglobin SC Crystals under microscope

Image by Dixiang Yuan

Sickle Cell Anemia Vs Sickle Cell Trait (comparison)

Video by Medicosis Perfectionalis/YouTube

Hemoglobin, Sickle

CDC/ Sickle Cell Foundation of Georgia: Jackie George, Beverly Sinclair; Photo credit: Janice Haney Carr

Hemoglobin, Sickle

CDC/ Sickle Cell Foundation of Georgia: Jackie George, Beverly Sinclair; Photo credit: Janice Haney Carr

Hemoglobin SC Crystals

Dixiang Yuan

4:10

Sickle Cell Anemia Vs Sickle Cell Trait (comparison)

Medicosis Perfectionalis/YouTube

Causes

What Causes Hemoglobin SC Disease?

The condition is caused by a change in the HBB gene, a gene that gives the body instructions for making beta-globin, a protein found in hemoglobin.

In hemoglobin SC disease, there are two changes to the HBB gene. One change causes an abnormal beta-globin called hemoglobin S (HbS). Another change causes an abnormal beta-globin called hemoglobin C (HbC).

The abnormal beta-globins cause red blood cells to break down more quickly and can block small blood vessels. This leads to many of the signs and symptoms of the condition.

Source: U.S. Health Resources & Services Administration

Inheritance

How Is Hemoglobin SC Disease Inherited?

Hemoglobin SC disease is a genetic condition. Babies inherit it from their biological (birth) parents.

Hemoglobin SC disease is an autosomal recessive condition. Babies inherit the condition when each parent passes down a nonworking HBB gene to their baby. Only babies with two nonworking HBB genes—one from the mom and one from the dad—have this condition.
- People with one normal copy and one nonworking copy of the HBB gene are said to have a hemoglobin trait (sometimes also called being a carrier).
- People with a hemoglobin trait do not have or develop the condition. However, they may pass down a nonworking copy of the gene to their children.
- If two parents have a hemoglobin trait, meaning a nonworking copy of the HBB gene, they have a 1 in 4 chance of having a child with hemoglobin SC disease.
- People with a hemoglobin trait for hemoglobin SC disease often do not know they have the nonworking gene copy before having a child with the condition. In most cases, families have no history of the condition until the birth of a child with hemoglobin SC disease.
- Parents who already have a child with hemoglobin SC disease still have a 1 in 4 chance of having another child with hemoglobin SC disease. This 1 in 4 chance stays the same for all future children.
Genetic counselors and medical geneticists can help families learn about this condition and the chance of having children with it.

Source: U.S. Health Resources & Services Administration

Symptoms

What Are the Signs and Symptoms of Hemoglobin SC Disease?

Many infants with hemoglobin SC disease do not have signs and symptoms of the condition until later in life. In some cases, signs of hemoglobin SC disease can appear within two months after birth.

Many children may not have any symptoms until they are already very sick. It is important to see a doctor and start treatment quickly.

Signs of the condition may include the following:

Serious infections
Large spleen (usually found during a health care provider visit)
Pain or painful swelling in hands or feet
Difficulty breathing

Source: U.S. Health Resources & Services Administration

Screening

Newborn Screening for Hemoglobin SC Disease

Newborn screening for hemoglobin SC disease is done using a small amount of blood collected from your baby’s heel. During screening, a special machine measures certain types of hemoglobins in your baby’s blood. Babies with different types of hemoglobins might have hemoglobin SC disease.

What Happens After an Out-of-Range Screening Result?

If your baby’s blood spot screening result for hemoglobin SC disease is out-of-range, your baby’s health care provider will contact you. Together, you will discuss next steps and follow-up plans.

An out-of-range screening result usually means that your baby has the condition and that your baby needs more follow-up testing.

Your baby may need the following tests after an out-of-range screening result:

Blood tests
Genetic testing using a blood sample

You should complete any recommended follow-up testing as soon as possible. Babies with this condition can have serious health problems soon after birth if they are not diagnosed and treated quickly.

False-positive newborn screening results for this condition are rare. However, screening samples that are collected after a baby receives red blood cells from someone else (a red cell transfusion) will be inaccurate.

Newborn screening helps babies lead healthier lives. If your baby has an out-of-range result, follow up with your health care provider quickly. It is important to follow their instructions. Your baby may need to get treatment right away, even if they are not showing signs or symptoms. In some cases, your baby’s health care provider may decide it is best to watch (monitor) your baby to decide next steps. Careful monitoring and early treatment will help your baby stay as healthy as possible.

Source: U.S. Health Resources & Services Administration

Treatment

How Is Hemoglobin SC Disease Treated?

It is important to talk to your health care provider about which treatment(s) are best for your baby. The goal of treatment is to prevent the health problems caused by this condition.

Treatments may include the following:

Daily dose of antibiotics to prevent repeated infections
Medications to treat pain (analgesics)
Blood transfusions in special circumstances

Children who receive early health care and treatment for hemoglobin SC disease can have healthier lives than those who do not receive treatment.

Source: U.S. Health Resources & Services Administration

Prognosis

Retina with Sickle Cell Disease

Image by CDC/ Lucille H. Young

Retina with Sickle Cell Disease

This image depicted what is known as a fundoscopic view of the retina, or the back of the left eye. Note that the retinal vessels appeared to be emanating from below, within a circular, lighter area known as the optic disc. This was the point where the retinal arterioles, and optic nerve, entered the rear of the eyeball. This image was rotated approximately 90° counterclockwise. The patient displayed a pathologic phenomenon that was associated sickle cell disease (SCD), and included posterior retinal and macular vascular occlusions. Note those arterioles exhibiting an occluded lumen, due to the obstructions produced by the irregularly-shaped, sickle cell shaped red blood cells (RBCs) trapped inside the vessels. Also note, the presence of fibrous deposition within the retinal tissues adjacent to these occluded vessels, as well as the tortuosity of the retinal arterioles.

Image by CDC/ Lucille H. Young

What Is the Long-Term Outlook for People with Hemoglobin SC Disease?

Another possible complication of hemoglobin SC disease can result from the bone, specifically the bones in the hip, not getting enough oxygen from the red blood cells. This is most common during or after pregnancy in women affected by hemoglobin SC disease. Treatment for this complication may require surgery or physical therapy.

Source: Genetic and Rare Diseases (GARD) Information Center

Additional Materials (1)

The Problem With Sickled Cells

Video by American Society of Hematology/YouTube

0:39

The Problem With Sickled Cells

American Society of Hematology/YouTube

Related HealthJournals

Sickle Cell Disease

Sickle cell disease is a group of disorders that causes your body to produce abnormally "sickle", or crescent shaped red blood cells. Characteristic features include a low number of red blood cells (anemia), repeated infections, and periodic episodes of pain. Learn about symptoms and treatment.

Sickle Cell Trait

Sickle cell trait occurs when a person has inherited the sickle cell gene from one of the parents. This is in contrast to sickle cell disease (SCD), in which the affected person has inherited the sickle cell gene from both parents. Learn how a single abnormal gene can affect your health.

Genetic Disorders

A mutation in a person's genes can cause a medical condition called a genetic disorder. Learn more about the types of genetic disorders and how they're diagnosed.

Hemoglobinopathy

The hemoglobinopathies are a group of disorders passed down through families (inherited) in which there is abnormal production or structure of the hemoglobin molecule.

Hemolytic Anemia

Hemolytic anemia is a blood condition that occurs when your red blood cells are destroyed faster than they can be replaced. Hemolytic anemia can develop quickly or slowly, and it can be mild or serious. There are many types of hemolytic anemia. Learn about the different types, causes, symptoms, and treatments.

Hemoglobin SE Disease

Hemoglobin SE disease (HbSE) is an inherited condition affecting the part of the blood that carries oxygen known as hemoglobin. People with this disease inherit a hemoglobin S gene from one parent and a gene for a different type of abnormal hemoglobin called E from the other parent. It is a milder form of sickle cell disease. Learn more.

Newborn Screening

A newborn infant has screening tests that must be done during the first few days of life. These tests look for serious medical conditions that can cause lifelong health problems or early death. With early diagnosis, treatment can begin right away, before serious problems can occur or become permanent. Get the facts about these tests.

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Hemoglobin SC Disease

Hemoglobin SC disease, is a type of sickle cell disease, which means it affects the shape of the red blood cells. It is characterized by the presence of both hemoglobin S and hemoglobin C. It is similar to, but less severe than sickle cell disease. Learn more about causes, screening and treatment.

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