Sickle cell disease (SCD) is a group of inherited red blood cell disorders. Red blood cells contain hemoglobin, a protein that carries oxygen. Healthy red blood cells are round, and they move through small blood vessels to carry oxygen to all parts of the body. In someone who has SCD, the hemoglobin is abnormal, which causes the red blood cells to 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 red blood cells. Also, when they travel through small blood vessels, they get stuck and clog the blood flow. This can cause pain and other serious complications (health problems) such as infection, acute chest syndrome and stroke.

Types of SCD

There are several types of SCD. The specific type of SCD a person has depends on the genes they inherited from their parents. People with SCD inherit genes that contain instructions, or code, for abnormal hemoglobin.

Below are the most common types of SCD:

HbSS

People who have this form of SCD inherit two genes, one from each parent, that code for hemoglobin “S.” Hemoglobin S is an abnormal form of hemoglobin that causes the red cells to become rigid, and sickle shaped. This is commonly called sickle cell anemia and is usually the most severe form of the disease.

HbSC

People who have this form of SCD inherit a hemoglobin “S” gene from one parent and a gene for a different type of abnormal hemoglobin called “C” from the other parent. This is usually a milder form of SCD.

HbS beta thalassemia

People who have this form of SCD inherit a hemoglobin “S” gene from one parent and a gene for beta thalassemia, another type of hemoglobin abnormality, from the other parent. There are two types of beta thalassemia: “zero” (HbS beta) and “plus” (HbS beta). Those with HbS beta-thalassemia usually have a severe form of SCD. People with HbS beta-thalassemia tend to have a milder form of SCD.

There also are a few rare types of SCD, such as the following:

HbSD, HbSE, and HbSO

People who have these forms of SCD inherit one hemoglobin “S” gene and one gene that codes for another abnormal type of hemoglobin (“D”, “E”, or “O”). The severity of these rarer types of SCD varies.

Sickle Cell Trait (SCT)

HbAS

People who have sickle cell trait (SCT) inherit a hemoglobin “S” gene from one parent and a normal gene (one that codes for hemoglobin “A”) from the other parent. People with SCT usually do not have any of the signs of the disease. However, in rare cases, a person with SCT may develop health problems; this occurs most often when there are other stresses on the body, such as when a person becomes dehydrated or exercises strenuously. Additionally, people who have SCT can pass the abnormal hemoglobin “S” gene on to their children.

Cause of SCD

SCD is a genetic condition that is present at birth. It is inherited when a child receives two genes—one from each parent—that code for abnormal hemoglobin.

Diagnosis

SCD is diagnosed with a simple blood test. In children born in the United States, it most often is found at birth during routine newborn screening tests at the hospital. In addition, SCD can be diagnosed while the baby is in the womb. Diagnostic tests before the baby is born, such as chorionic villus sampling and amniocentesis, can check for chromosomal or genetic abnormalities in the baby. Chorionic villus sampling tests a tiny piece of the placenta, called chorionic villus. Amniocentesis tests a small sample of amniotic fluid surrounding the baby.

Because children with SCD are at an increased risk of infection and other health problems, early diagnosis and treatment are important.

Talk to your doctor to find out how to get tested and to explain the results after testing.

Complications

People with SCD may start to have signs of the disease during the first year of life, usually around 5 months of age. Symptoms and complications of SCD are different for each person and can range from mild to severe.

Prevention and Treatment of SCD Complications

General Prevention Strategies

Management of SCD is focused on preventing and treating pain episodes and other complications. Prevention strategies include lifestyle behaviors as well as medical screening and interventions to prevent SCD complications.

Lifestyle Behaviors

There are simple steps that people with SCD can take to help prevent and reduce the occurrence of pain crises, including the following:

• Drink plenty of water.
• Try not to get too hot or too cold.
• Try to avoid places or situations that cause exposure to high altitudes (for example, flying, mountain climbing, or cities with a high altitude).
• Try to avoid places or situations with exposure to low oxygen levels (for example, mountain climbing or exercising extremely hard, such as in military boot camp or when training for an athletic competition).

Simple steps to prevent harmful infections include the following:

• Wash your hands often. Washing hands with soap and clean water many times each day is one of the best ways people with SCD, their family members, and other caregivers can help prevent an infection.
• Prepare food safely. Bacteria can be especially harmful to children with SCD.

Medical Screenings & Interventions to Prevent SCD Complications

Prevention of Infections

• Vaccines can protect against harmful infections. It is important that children with SCD get all regular childhood vaccines. Similarly, it is important for children and adults to get the flu vaccine every year, as well as the pneumococcal vaccine and any others recommended by a doctor.
• Penicillin greatly reduces the risk of infections in people with HbSS and has been shown to be even more effective when it is started earlier. To decrease the risk of infection, it’s important that young children with HbSS take penicillin (or other antibiotic prescribed by a doctor) every day until at least 5 years of age. Penicillin on a daily basis is usually not prescribed for children with other types of SCD unless the severity of the disease is similar to that of HbSS, such as HbS beta-thalassemia.

Prevention of Vision Loss

• Yearly visits to an eye doctor to look for damage to the retina (the part of your eye that senses light and sends images to your brain) are important for people with SCD to avoid vision loss. If possible, it’s best to see an eye doctor who specializes in diseases of the retina.
• If the retina is damaged by excessive blood vessel growth, laser treatment often can prevent further vision loss.

Prevention of Stroke

• Children who are at risk for stroke can be identified using a special type of exam called transcranial Doppler ultrasound (TCD). If the child is found to have an abnormal TCD, a doctor might recommend frequent blood transfusions (a procedure in which new blood is put into a person’s body through a small plastic tube inserted into a person’s blood vessels) to help prevent a stroke.
• People who have frequent blood transfusions are usually watched closely because there can be serious side effects. For example, because blood contains iron, transfusions can lead to a condition called iron overload, in which too much iron builds up in the body. Iron overload can cause life-threatening damage to the liver, heart, and other organs. Therefore, it is important for people with SCD receiving regular blood transfusions to also receive treatment to reduce excess iron in the body. This type of treatment is known as iron chelation therapy.

Prevention of Severe Anemia

• Blood transfusions may be used to treat severe anemia. A sudden worsening of anemia resulting from infection or enlargement of the spleen (an organ in the upper left side of the abdomen) is a common reason for a transfusion.
• As with preventing stroke, frequent blood transfusions can cause iron overload, and iron chelation therapy may be needed to reduce excess iron in the body.

Management of Pain Crises

When pain crises do occur, clinical management may include the following:

• Intravenous fluids (giving fluids directly into a person’s vein)
• Pain-reducing medicine
• Hospitalization for severe pain crises

Specific Treatments to Prevent SCD Complications

SCD is a disease that worsens over time. Treatments are available that can prevent complications and lengthen the lives of those who have this condition. These treatment options and their effects can be different for each person, depending on the symptoms and severity of their disease. It is important to understand the benefits and risks of each treatment option. Currently, the FDA has approved four treatments for SCD.

• Hydroxyurea (pronounced “hi-DROK-see-yoo-REE-uh”) may help people with SCD ages 2 years and older. More information about hydroxyurea can be found here.
• L-glutamine (pronounced “L-gloo-ta-meen,”), or ENDARI® may help people with SCD ages 5 years and older. More information about L-glutamine can be found on page 2 here.
• Voxelotor (pronounced “vox-EL-o-tor”), or OXBRYTA® may help people with SCD ages 4 years and older. More information about Voxelotor can be found on page 3 here.
• Crizanlizumab (pronounced “criz-an-liz-u-mab”), or ADAKVEO® may help people with SCD ages 16 years and older. More information about Crizanlizumab can be found on page 1 here.

Several other treatments and therapies for SCD have recently been developed that are still undergoing clinical trials and thus have not yet been approved by the FDA.

Cure

The only therapy approved by the FDA that may be able to cure SCD is a bone marrow or stem cell transplant.

Bone marrow is a soft, fatty tissue inside the center of the bones, where blood cells are made. A bone marrow or stem cell transplant is a procedure that takes healthy cells that form blood from one person—the donor—and puts them into someone whose bone marrow is not working properly.

Bone marrow or stem cell transplants are very risky and can have serious side effects, including death. For the transplant to work, the bone marrow must be a close match. Usually, the best donor is a brother or sister. Bone marrow or stem cell transplants are most common in cases of severe SCD for children who have minimal organ damage from the disease.

People with sickle cell disease can live full lives and enjoy most of the activities that other people do. The following tips will help you, or someone you know with sickle cell disease, stay as healthy as possible.

Find Good Medical Care

Sickle cell disease is a complex disease. Good quality medical care from doctors and nurses who know a lot about the disease can help prevent some serious problems. Often the best choice is a hematologist (a doctor who specializes in blood diseases) working with a team of specialists.

Get Regular Checkups

Regular health checkups with a primary care doctor can help prevent some serious problems.

• Babies from birth to 1 year of age should see a doctor every 2 to 3 months.
• Children from 1 to 2 years of age should see a doctor at least every 3 months.
• Children and adults from 2 years of age or older should see a doctor at least once every year.

Prevent Infections

Common illnesses, like the flu, can quickly become dangerous for a child with sickle cell disease. The best defense is to take simple steps to help prevent infections.

Learn Healthy Habits

People with sickle cell disease should drink 8 to 10 glasses of water every day and eat healthy food. Try not to get too hot, too cold, or too tired.

Children can, and should, participate in physical activity to help stay healthy. However, it’s important that they don’t overdo it, rest when tired, and drink plenty of water.

Look for clinical studies

New clinical research studies are happening all the time to find better treatments and, hopefully, a cure for sickle cell disease. People who participate in these studies might have access to new medicines and treatment options.

Get support

Find a patient support group or community-based organization that can provide information, assistance, and support.

Transition is the process of young people with sickle cell disease (SCD), a genetic blood disorder, learning to become more responsible for their health and transferring their health care to an adult healthcare provider. Learn about transitioning care with SCD, read tips to prepare for it, and find more resources to help manage transition.

For teens with sickle cell disease, transition is part of maturing into an adult.

Sickle cell disease (SCD) is a genetic blood disorder affecting red blood cells. People with SCD have abnormally shaped red blood cells that block oxygen from reaching the body’s tissues and organs. SCD is present at birth, and mild to severe health problems, such as pain crises, infection, and stroke can affect people with SCD throughout their lifetime.

When a child with SCD is young, parents or other adult caregivers are responsible for managing the child’s health and healthcare needs. Parents or other adult caregivers will schedule doctor’s appointments, manage treatment schedules, and make sure the child is both eating healthy and sleeping well to reduce the severity and occurrence of pain crises and other SCD-related health problems.

As young people with SCD enter their teenage years and mature into adults, the responsibility shifts from the caregiver to the teen themselves. This process is known as transition. During transition, teens and young adults with SCD also transfer their health care from a pediatric doctor (a doctor who treats children) to a doctor who focuses on treating adults (an adult healthcare provider).These teens will need to learn how to work with their adult healthcare provider to prioritize and manage their health.

Young people with sickle cell disease can prepare for transition.

It is important for teens with SCD to be prepared for transition. Preparing for transition can make it more likely that teens with SCD will have more success transitioning care to an adult care provider and continue to receive adequate, regular care to be healthy.

Tips to Prepare for Transition

• Search for a doctor who treats adults and is knowledgeable about SCD. There are a limited number of doctors who are trained to properly treat adult patients with SCD. Reach out to local SCD organizations for help finding a doctor trained to treat SCD to continue to receive treatment and care.
• Be prepared to educate healthcare providers who may be less familiar with SCD and your health history. Keep a record of your medical history and give it to your new adult care provider.
• Join a support group for young people with SCD going through transition. You don’t have to go through transition alone. Get connected and share your experiences.
• Learn about health insurance options and how eligibility may change as you get older. These changes can affect access to healthcare services, treatment options, and the ability to receive timely care.

Transition can be a difficult and overwhelming time for teens with SCD because it can also coincide with major life changes and milestones that young adults will face as they mature into adulthood. Life changes, such as attending college, finding a job, or moving to a new location, can make it harder for teens with SCD to manage their transition. By being prepared with resources, knowledge, and support, teens with SCD can overcome these challenges and stay healthy during transition.

5 Tips to Help Prevent Infections

Common illnesses, like the flu, can quickly become dangerous for a person with sickle cell disease. The best defense is to take simple steps to help prevent infections.

Hand Washing

Washing your hands is one of the best ways to help prevent getting an infection. People with sickle cell disease, their family, and other caretakers should wash their hands with soap and clean water many times each day. If you don’t have soap and water, you can use gel hand cleaners with alcohol in them.

Times to wash your hands:

BEFORE

• Making food
• Eating

AFTER

• Using the bathroom
• Blowing your nose, coughing, or sneezing
• Shaking hands
• Touching people or things that can carry germs, such as:
  • Diapers or a child who has used the toilet
  • Food that is not cooked (raw meat, raw eggs, or unwashed vegetables)
  • Animals or animal waste
  • Trash
  • A sick person

Food Safety

Bacteria, called salmonella, in some foods can be especially harmful to children with sickle cell disease. How to stay safe when cooking and eating:

• Wash hands, cutting boards, counters, knives, and other utensils after they touch uncooked foods.
• Wash vegetables and fruit well before eating them.
• Cook meat until it’s well done. The juices should run clear and there should be no pink inside.
• Do not eat raw or undercooked eggs. Raw eggs might be hiding in homemade hollandaise sauce, caesar and other homemade salad dressings, tiramisu, homemade ice cream, homemade mayonnaise, cookie dough, and frostings.
• Do not eat raw or unpasteurized milk or other dairy products (cheeses). Make sure these foods have a label that says they are “pasteurized.”

Reptiles

Bacteria, called salmonella, that some reptiles have can be especially harmful to children with SCD. Make sure children stay away from turtles, snakes, and lizards.

Vaccines

Vaccines are a great way to prevent many serious infections. Children and adults with sickle cell disease should get all recommended vaccinations, including a flu vaccination. People with sickle cell disease are considered “high risk” for certain infections and should follow a special vaccination schedule for the following vaccines:

• Haemophilus influenzae type b (Hib)
• Pneumococcal vaccines
• Meningococcal vaccines

Click here to see the most up-to-date vaccination schedules. Pay special attention to the footnotes that provide special instructions for people with sickle cell disease.

Penicillin

Take penicillin (or other antibiotic prescribed by a doctor) every day until at least 5 years of age.

It is very important that every person or family with a young child with sickle cell disease have a plan for how to get help immediately, at any hour, if there’s a problem. Be sure to find a place that will have access to your medical records or bring a copy.

Go to an emergency room or urgent care facility right away for:

• Fever above 101° F
• Difficulty breathing
• Chest pain
• Abdominal (belly) swelling
• Severe headache
• Sudden weakness or loss of feeling and movement
• Seizure
• Painful erection of the penis that lasts more than 4 hours

Call a doctor right away for:

• Pain anywhere in the body that will not go away with treatment at home
• Any sudden problem with vision

People with sickle cell disease (SCD) start to have signs of the disease during the first year of life, usually around 5 months of age. Symptoms and complications of SCD are different for each person and can range from mild to severe. People with SCD can experience different complications, but some of the common ones are listed below.

Acute Chest Syndrome

Acute chest syndrome (ACS) is a life-threatening complication in people living with SCD that can result in lung injury, breathing difficulty, and low oxygen to the rest of the body. ACS may occur when sickled cells block blood and oxygen from reaching the lungs or may be caused by a viral or bacterial infection. In children, ACS is usually caused by an infection.

ACS is a medical emergency and should be treated in the hospital right away. Signs and symptoms are similar to pneumonia and can include:

• Chest pain
• Coughing
• Difficulty breathing
• Fever

Anemia

With SCD, the red blood cells die early, leading to a condition called anemia. Anemia occurs when there is not enough healthy red blood cells to carry oxygen throughout the body. When a person has anemia, they might feel tired. Other symptoms can include:

• Irritability
• Dizziness and lightheadedness
• A fast heart rate
• Difficulty breathing
• Pale skin color
• Jaundice (yellow color to the skin and whites of the eyes)
• Slow growth
• Delayed puberty

Avascular Necrosis (Death of Bone Tissue)

Sickled cells can block blood flow in blood vessels that provide blood to bones in our body. When the bone does not get enough oxygen, the bone tissue can die, a complication known as avascular necrosis (AVN). When there is not enough blood reaching the bone, the joint can narrow and the bone can collapse. AVN can affect single joints or multiple joints at the same time.

The most common location of an AVN occurring is the hip joint, but it can also occur in other areas of the body.

AVN can occur without any symptoms, but as AVN progresses, it can result in mild to severe joint pain in the affected area.

Blood Clots

Sickled red blood cells can make it more likely for the blood to clot, increasing a person’s chance of developing a blood clot in a deep vein (deep vein thrombosis or DVT), commonly in the leg, thigh, pelvis, and arm. A DVT can break off and travel to the lungs (pulmonary embolism or PE). A DVT and PE can cause serious illness, disability, and in some cases, death.

People with a DVT may not experience symptoms, but the most common signs and symptoms of a DVT that occur in the affected part of the body include:

• Swelling
• Pain or tenderness
• Redness of the skin

If you have any of these symptoms, see your doctor as soon as possible.

A PE can occur without any symptoms of a DVT. Signs and symptoms of PE can include:

• Difficulty breathing
• Faster than normal or irregular heartbeat
• Chest pain or discomfort that worsens with a deep breath or cough
• Cough or coughing up blood
• Very low blood pressure, lightheadedness, or fainting

If you have any of these symptoms, seek medical help immediately.

Dactylitis (Hand-Foot Syndrome)

Painful swelling in the hands and feet is usually the first symptom of SCD in infants and toddlers. This swelling, often along with a fever, is caused by the sickled cells getting stuck in the blood vessels and blocking blood flow in the small bones of the hands and feet.

Fever

A fever may be the first sign of an infection or other SCD-related complication, such as acute chest syndrome, that can be life-threatening. For infants and children with SCD, a fever may be the only sign of an infection. It’s important for people with SCD to go to the emergency department or hospital for a fever of 101 degrees Fahrenheit or 38.5 Celsius or greater.

Infection

People with SCD, especially infants and children, are more likely to experience harmful infections, such as the flu, meningitis, and pneumonia. Pneumonia is a leading cause of death in infants and young children with SCD. People with SCD who require regular transfusions as part of their treatment are also at increased risk for viral hepatitis.

Symptoms may vary by the type of infection, but fever may be the first sign. An infection can be life-threatening for people with SCD, and they should go to the emergency department or hospital immediately for treatment if they think they might have an infection.

Children and adults with SCD should get all recommended vaccinations, including a flu vaccination. People with SCD are considered “high risk” for certain infections and should follow a special vaccination schedule for the following vaccines:

• Haemophilus influenzae type b (Hib)
• Pneumococcal vaccines
• Meningococcal vaccines

Additionally, for children under 5 years of age, daily penicillin (or other antibiotic prescribed by a doctor) is recommended.

Kidney Problems

Sickled cells can cause reduced blood flow to the kidneys, leading to kidney damage and chronic kidney disease. The kidneys are an organ that filters waste from blood and produces urine. When the kidney does not get enough oxygen, kidney cells can die early, making it harder for the kidneys to function properly. This can affect the kidney’s ability to filter out waste and can lead to excessive urination.

Some signs and symptoms include:

• Frequent urination
• Nighttime bedwetting
• High blood pressure
• Bloody urine
• Nausea and vomiting
• Fatigue
• Shortness of breath

Leg Ulcers

Poor circulation of blood in the leg can lead to painful leg ulcers, usually on the lower part of the leg. Leg ulcers happen more often in males than in females and usually appear in people aged 10 to 50 years. A combination of factors can cause ulcers, including trauma, infection, inflammation (swelling), and poor blood flow in the smallest blood vessels of the legs.

Common symptoms include:

• Open sores
• Pain in the affected area
• Pus or discharge in the affected area
• Swelling
• An itchy or burning feeling

Liver Problems

The liver is an organ that helps the body digest food and remove toxins. Sickled cells in the liver can cause damage to the liver, leading to liver disease. Additionally, some persons with SCD receive repeated blood transfusions, which can result in excess iron in the body, known as iron overload. Iron overload can also damage the liver. Sickle hepatopathy is a term used to describe the different causes of liver disease in people with SCD. A few health problems that can occur include:

• Acute sickle hepatic crisis is when sickled cells in the blood vessels cause a pain crisis occurring in the liver.
• Intrahepatic cholestasis occurs when sickled cells block blood flow in the liver. The blockage prevents oxygen from reaching the liver, damaging the liver.
• Cholelithiasis is when gallstones (hard, rock-like “stones”) form in the gallbladder (an organ behind the liver that stores and releases bile to help break down fatty foods). When red blood cells break down, they release bilirubin. Sickled red blood cells break down faster than healthy red blood cells, producing excess amounts of bilirubin, which can lead to the formation of gallstones. Bilirubin is a yellowish substance that is made during the body’s normal process of breaking down red blood cells. A healthy liver will mostly remove bilirubin from the body.

Symptoms can vary by the liver condition, but common symptoms of liver problems can include:

• Pain in the upper right side of the abdomen (belly)
• Nausea
• Vomiting
• Yellowing of the eyes and skin (jaundice)

Organ Damage

People with SCD are at greater risk than the general population for problems related to the heart, lung, kidney, and other organs because not enough blood and oxygen is reaching the organs. SCD can lead to multiorgan failure, a life-threatening complication that occurs when multiple organs in the body are not functioning properly due to a lack of blood flow reaching the organs.

Symptoms can be different depending on the organ(s) affected but some symptoms can include:

• Difficulty breathing
• Irregular heartbeat
• Nausea
• Swelling in the hands and feet
• Yellowing of the eyes and skin (jaundice)

Pain

Pain is the most common complication of SCD, and the top reason that people with SCD go to the emergency department or hospital. Sickled cells traveling through small blood vessels can get stuck and block blood flow throughout the body, causing pain. A pain crisis (vaso-occlusive episode or VOE) can start suddenly, be mild to severe, and can last for any length of time. Pain can occur in any part of the body, but commonly occurs in the hands, feet, chest, and back.

Pain that comes suddenly and lasts for a short time is referred to as acute pain. Chronic pain is daily, on-going pain lasting more than 6 months. People with SCD can experience acute pain, chronic pain, and/or both. Opioids are a class of drugs sometimes used to reduce pain. People with SCD should talk with their SCD provider to help make a pain management plan.

Priapism (Painful Erection of the Penis)

Sickled red blood cells in the penis can cause a persistent and often painful erection of the penis, known as priapism. Repeated episodes that happen for a short time, also known as stuttering priapism, can last for a few minutes and up to three hours. A prolonged priapism is an episode that lasts more than 2 hours. It’s important to seek medical treatment when priapism lasts more than 2 hours. Repeated episodes over time and delayed treatment can cause permanent damage and erectile dysfunction.

Pulmonary Hypertension (High Blood Pressure in the Lungs)

People with SCD are at greater risk than the general population for high blood pressure in the lungs, which can be life-threatening.

Some signs and symptoms of high blood pressure in the lungs can include:

• Difficulty breathing
• Fatigue
• Chest discomfort or pain
• Swelling of the ankles, legs, or abdomen (belly)
• Light-headedness or dizziness

Sleep-Disordered Breathing

SCD can cause lung problems that can lead to breathing-related and sleep-related disorders, such as sleep apnea. Sleep apnea is when breathing repeatedly stops and starts, making it hard to get deep, restorative sleep.

Some signs and symptoms can include:

• Loud snoring
• Gasping for air during sleep
• Episodes in which you stop breathing during sleep – reported by another person
• Excessive daytime sleepiness
• Irritability

Splenic Sequestration

Splenic sequestration occurs when sickled red blood cells get trapped in the spleen and block blood flow, causing it to suddenly get bigger, fill with blood, and become swollen and painful. The spleen is an organ in the upper left part of the abdomen (belly) that helps the body fight an infection. A splenic sequestration can affect anyone with SCD, but it typically affects children. Parents of a child with SCD can learn how to feel and measure the size of their child’s spleen and seek medical attention if the spleen is enlarged.

The most common symptom is pain on the left side of the abdomen (belly) and can include:

• Sudden weakness
• Pale lips
• Fast breathing
• A fast heartbeat

Stroke

A stroke can happen if sickled cells get stuck in a blood vessel and block blood flow to the brain, making it harder for the brain to get the oxygen it needs to function properly. About 10% of children with SCD will have a symptomatic stroke. A stroke is more common among people with sickle cell anemia. It is recommended that children with sickle cell anemia get a special type of exam called a transcranial Doppler ultrasound (TCD) every year starting at 2 years old until they are 16 years old. A TCD can identify children who are at high risk of a stroke.

Some signs or symptoms of a stroke include:

• Sudden numbness or weakness, especially on one side of the body
• Sudden confusion or difficulty understanding speech
• Sudden trouble seeing in one or both eyes
• Sudden trouble walking, dizziness, loss of balance, or lack of coordination
• Sudden severe headaches with no known cause

A silent stroke is a stroke that occurs without any signs or symptoms. A person who experiences a silent stroke may not be aware of their stroke and it can only be detected using an imaging test known as magnetic resonance imaging (MRI). A silent stroke can lead to brain injury.

Vision Loss

Sickled cells can block blood flow in the blood vessels in the eye. A blockage can occur in any part of the eye, but a blockage in the blood vessels in the retina (layer of tissue in the back of the eye that sends images to your brain) is the most common.

People with a blockage may not experience any symptoms and then suddenly experience vision problems, leading to permanent blindness.

People with sickle cell disease (SCD) are at greater risk than the general population for high blood pressure. High blood pressure often increases the workload of the heart and blood vessels, which can cause complications. Share your medical history with your healthcare team so it can properly identify and treat any complications of SCD you currently have or may develop. Your healthcare team may include your primary care provider, SCD provider, and any other healthcare specialists. Below are steps you can take for better heart health.

High Blood Pressure

Know your numbers. Ask your provider about your blood pressure reading at each visit. Keep track of this information and talk to your provider if your blood pressure reading is above 120/80 mm Hg.

If your blood pressure is higher than 120/80 mm Hg, your provider will likely prescribe blood pressure medicine to lower your risk for complications.

If you have high blood pressure, you can help lower it by doing the following:

Be physically active. Adults should get 30 minutes of exercise, such as brisk walking or bicycling, 5 days a week. Children and adolescents should get 1 hour of physical activity every day.

Eat healthy. Talk with your healthcare team about eating a variety of foods rich in potassium, fiber, and protein, and low in salt (sodium) and saturated fat.

Quit smoking. Smoking raises your blood pressure and puts you at higher risk for heart attack and stroke. Your doctor can suggest ways to help you quit.

Limit how much alcohol you drink. The Dietary Guidelines for Americans recommend up to 1 drink per day for women and up to 2 drinks per day for men.

Get enough sleep. Make sure to get 7 hours of sleep or more every night.

People with sickle cell disease (SCD) are at greater risk than the general population for forming blood clots. A blood clot in one of the large veins, usually in a person’s leg or arm, is called a deep vein thrombosis (DVT). If a DVT is not treated, it can get bigger or break off and travel to the lungs. A blood clot in the lung is called pulmonary embolism (PE) and can cause death.

Call your provider as soon as possible if you experience any of the DVT symptoms listed below.

• Swelling of your leg or arm
• Pain or tenderness in your leg or arm not caused by an injury
• Skin on your leg or arm that is warm to the touch, with swelling or pain
• Redness of the skin on your leg or arm, with swelling or pain

Get medical attention immediately if you experience any of the PE symptoms listed below.

• Sudden, severe, and unusual shortness of breath
• Sudden, severe, and unusual chest pain
• Faster-than-normal or irregular heartbeat
• Coughing up blood

Talk to your provider about any factors that might increase your risk for blood clots. Some of these factors are:

Other risk factors include:

• Birth control that contains estrogen
• Being overweight
• Hormone replacement therapy that contains estrogen
• Family history of blood clots

• Trauma, particularly when the vein is injured
• Smoking
• Immobility or sitting for long periods

Talk to your provider to get the facts about anticoagulants (commonly known as “blood thinners”). The lifesaving benefits of these medicines often outweigh the potential risks. Still, it’s important to learn about both before you start taking them.

Anticoagulants are medicines that lower your risk for developing future blood clots. Here is what you need to know:

• If you have a blood clot for the first time without any factors that might increase your risk, your provider will prescribe you anticoagulants for life.
• If you have a blood clot for the first time caused by a temporary event such as a hospitalization, surgery, or being unable to move because of a fracture, your provider will prescribe you anticoagulants for 3–6 months.
• If you have frequent blood clots as a result of factors that might increase your risk, your provider will prescribe you anticoagulants for life.

Although effective in lowering your chance of developing future blood clots, anticoagulants come with risks. For example, they can cause you to bleed more than usual when you have a cut.

People with sickle cell disease (SCD) are at greater risk than the general population for lung problems. Lung problems can cause breathing-related difficulties and disorders and sleep-related disorders. Share your medical history with your healthcare team so it can properly identify and treat any complications of SCD you have or may develop. Your healthcare team may include your primary care provider, SCD provider, and any other healthcare specialists. Below is one step you can take towards better lung health.

Talk to your provider if you have, or have ever had, any signs or symptoms of breathing- or sleep-related problems. Use the checklist below to guide this discussion.

Breathing- or Sleep-Related Problems

• Coughing/wheezing
• Shortness of breath
• Difficulty breathing with exercise
• Chest pain
• Snoring
• Being very sleepy or drowsy during the day
• Waking up feeling unrested
• Early morning headaches
• Inability to focus or think straight, confusion
• Low oxygen levels (“hypoxemia”)
• Acute chest syndrome (life-threatening complication of SCD)
• Blood clots in the lungs
• Stroke
• Frequent pain episodes
• Recurring, prolonged erection of penis
• Bedwetting after 10 years of age
• Congestive heart failure (when the heart’s ability to pump blood to the body is very impaired)
• Fainting/dizziness

It is important to share your checklist with your provider because he or she may need to perform

• A sleep study (a test used to diagnose sleep disorders); and/or
• Routine testing to measure how well your lungs are working.

People with sickle cell disease (SCD) are at greater risk than the general population for kidney complications. Share your medical history with your healthcare team so it can properly identify and treat any complications of SCD you currently have or may develop. Your healthcare team may include your primary care provider, SCD provider, and any other healthcare specialists. Below are common kidney complications and steps you can take for better kidney health.

Albuminuria (too much protein in the urine)

People with SCD often have albuminuria, or too much protein in the urine (possibly an early sign of kidney disease). Remind your provider to check your urine every year. A simple urine test done every year will help your provider monitor the amount of protein in your urine. Your provider may prescribe medicines that lower the amount of protein in your urine to help protect your kidneys.

Worsening anemia related to chronic kidney disease

Chronic kidney disease is a condition in which the ability of the kidneys to make urine properly decreases over time. In people with SCD, chronic kidney disease can cause worsening anemia, a condition in which the body does not make enough red blood cells. Share with your provider if you have any of the following symptoms of anemia:

Worsening fatigue (feeling tired and worn out)Generalized weakness (muscle movement difficulties)Pale skinCold hands and feetDizzinessShortness of breath

Your provider will likely prescribe medicines that help treat anemia caused by chronic kidney disease.

End-stage kidney disease

Chronic kidney disease can progress into end-stage kidney disease, a possibly fatal condition in which your kidneys stop working. In later stages of kidney disease, ask your provider if a kidney transplant (a surgery in which a damaged kidney is replaced with a healthy kidney from someone else) is an option for you.

If you have sickle cell disease (SCD), you may experience chronic pain, which is pain that lasts most days for 6 months or more. Pain management looks different for everyone. It is important that you and your healthcare provider work together to make decisions about the best treatment for you.

Know your options for treating pain.

Many options for pain management are available. If you have SCD and experience chronic pain, talk to your provider about the following options:

• Medicines shown to relieve chronic pain, including these:
  • Serotonin and norepinephrine reuptake inhibitors (SNRIs), such as duloxetine and milnacipran. Some of these SNRIs are also used to treat depression.
  • Tricyclic antidepressants, such as amitriptyline and nortriptyline.
  • Gabapentinoids, such as gabapentin and pregabalin. These medicines can also treat seizures (convulsions), so they are sometimes called anticonvulsants.
  • Nonsteroidal anti-inflammatory drugs (NSAIDs), such as ibuprofen and naproxen.
  • Opioids, such as oxycodone, hydrocodone, and morphine. However, it is important to consider both the benefits and risks of opioid therapy (see below for more details).
• Cognitive behavioral therapy, a psychological, goal-directed approach to alter physical, behavioral, and emotional responses to pain and stress.
• Other therapies, such as acupuncture and massage.

Know the risks and benefits of opioids.

Long-term opioid therapy (LTOT), or long-term use of opioids, such as oxycodone, hydrocodone, and morphine, can be prescribed by providers to treat moderate to severe pain but can also have serious risks and side effects. Have detailed discussions with your provider about whether LTOT is right for you. Consider the following scenarios:

• If you recently developed chronic pain, LTOT is not suggested unless the pain does not respond to other therapies.
• If you are functioning well on LTOT, work with your provider to make decisions about the risks and benefits of continuing LTOT.
• If you are functioning poorly on LTOT, continuing LTOT is not suggested.

If you have sickle cell disease (SCD), you may experience acute pain (often called a pain crisis), which starts suddenly and usually lasts less than a month. Pain management is different for everyone. It is important that you and your healthcare provider work together to make decisions about the best treatment for you.

Create an individualized pain management plan with your provider.

An individualized pain management plan, prepared by your provider, is a document that contains your contact details and treatment information specific to your health needs, including dosage of your pain medicines. Work with your provider to make and follow an individualized pain management plan. Remember to do the following:

• Talk to your provider about your health history, including past pain management.
• Stay informed about the risks and benefits of prescription opioids. Prescription opioids, such as oxycodone, hydrocodone, and morphine, can be prescribed by doctors to treat moderate to severe pain but can also have serious risks and side effects. Learn more here>>
• Make sure you can access your plan (electronically or a print copy) when you receive care.
• Work with your provider to update your plan yearly.

Know your options for treating pain.

• Opioids are commonly used to manage moderate to severe pain, but some patients may have acute pain that does not respond to these medicines. Talk to your provider about options that you can take instead of, or in addition to, opioids.
• Ketamine, an anesthetic generally used for surgery, can also help treat SCD-related acute pain.
• Nonmedication options for pain management include the following:
  • Massage.
  • Yoga.
  • Transcutaneous electrical nerve stimulation (TENS; use of electric currents to treat pain).
  • Virtual reality.
  • Guided audiovisual relaxation.

Before you have a pain crisis, find a SCD-specific acute care facility.

If you have a pain crisis, it is best to seek care at an SCD-specific acute care facility, if possible, including

• Day hospitals (an outpatient facility where patients seek care during the day and then return home), and
• Infusion centers (an outpatient facility that provides specialized care for sickle cell crises).

These facilities are better equipped to evaluate, diagnose, and treat SCD-related acute pain than emergency departments (EDs). If you need to seek care in an ED, be sure you have access (electronically or a print copy) to your individualized pain management plan when you go.

People with sickle cell disease (SCD) are often prescribed medicines for common complications of SCD. If your provider prescribes you medicine, take the following steps:

Ask your provider about the benefits and risks of your medicine.

Although medicines can have lifesaving benefits, they sometimes come with risks. It’s important to learn about both before you start taking your medicine.

Take your medicine exactly as prescribed.

It is important to take the right amount, at the right time, and in the right way. Not doing so can seriously affect your health. Talk to your provider if, for any reason, you are having trouble following your treatment plan.

Report any side effects of your medicine.

If you are experiencing side effects from your medicine, report them to your provider so that he/she can treat the side effects and change your treatment plan, if needed.

If you have sickle cell disease (SCD), you may need one or more blood transfusions (healthy blood from a donor put into your body) during your lifetime. During a blood transfusion, your blood and the donated blood must have matching antigens, or special proteins on the surface of each red blood cell.

If the antigens in your blood and the donated blood do not match, your immune system (your body’s ability to fight germs) may attack the new blood. This transfusion reaction can cause serious health problems. Below are steps you can take for safer blood transfusions.

Share Your Transfusion History with Your Healthcare Provider

Share past health information including your number of lifetime transfusions and any reactions to blood transfusions such as severe pain, fatigue, brown or red urine, and fever. If you have had past transfusion reactions, your provider may talk to you about the risks and benefits of immunosuppressants. These medicines lower the chance of your immune system rejecting the donor blood, protecting you from a life-threatening transfusion reaction.

Know Your Blood Type

Ask your provider for an extended red cell antigen profile, a test that determines your antigens. Share the results with your healthcare providers before your blood transfusion.

Request Blood Matching

Once you know your antigens, they need to be matched with the antigens of the donor’s blood to avoid a transfusion reaction during the blood transfusion. Ask your provider for blood that is matched for these antigens to which people with SCD most commonly have transfusion reactions: C/c, E/e, and K red cell antigens.

Track Your Iron Levels

If you have received more than 10 transfusions in your lifetime, you may be at risk for iron overload (too much iron in the body). Ask your provider for a ferritin blood test, which measures the amount of iron in your blood. If your ferritin levels are high (greater than 1,000) and you receive transfusions on a regular schedule, your provider should run a magnetic resonance imaging (MRI) test that measures iron levels in your liver. Your provider may also run an MRI that measures iron levels in your heart.

Talk to Your Provider About Your Transfusion Options

If you need regular transfusions, ask your provider about an automated red cell exchange, a transfusion process that removes and replaces sickled cells with healthy blood. This process may be preferred over a simple blood transfusion during which healthy blood is added to blood with sickled cells. An automated red cell exchange can lower your risk for health problems, such as iron overload.

With every beat of your heart, blood carries oxygen from your lungs throughout your body. This life-sustaining process happens automatically, whether you’re awake or asleep.

But for people with sickle cell disease, it often goes awry. People with this disease have an abnormal type of hemoglobin, the oxygen-carrying molecule in red blood cells.

Normally, red blood cells are flexible and shaped like a disc. But the hemoglobin in people with sickle cell disease causes abnormally shaped red blood cells. Most commonly, they’re a crescent (or sickle) shape.

These inflexible, bent cells can stick to the blood vessel walls. The resulting clumps slow or stop the flow of blood. This may lead to pain and organ damage.

“Sickle cell disease can potentially block blood supply to any organ in the body,” explains Dr. Swee Lay Thein, a blood disorder expert at NIH.

Most people with sickle cell disease used to die before reaching adulthood. But with modern treatments, people in the U.S. now live into their 40s, 50s, or even 60s. And researchers are working on cutting-edge therapies, such as fixing the broken gene that causes the disease.

“I think treatment is going to look very different in the next 20 years,” says Dr. Allison King, an expert on sickle cell disease in children at Washington University in St. Louis.

One Gene, Many Symptoms

Sickle cell disease is caused by changes in a single gene. But everyone has two copies of the gene. You inherit one copy from each parent. More than two million people in the U.S. carry one abnormal copy, called sickle cell trait. They don’t usually have any symptoms. But if you inherit two copies, the result is sickle cell disease.

About 100,000 people in the U.S. live with sickle cell disease. Most are African American. But every baby born in the U.S. is tested for sickle cell disease at birth. This helps doctors start treatment as early as possible.

Children don’t usually show symptoms until they’re between six and 12 months old, Thein explains. Babies’ red blood cells have a different type of hemoglobin, called fetal hemoglobin. As they grow, the body switches to producing adult hemoglobin. Then, the sickling cycle begins.

A normal red blood cell lives for around three to four months. But in people with sickle cell disease, the cells usually live for just two to three weeks. This leads to anemia, a condition in which your blood has low amounts of red blood cells or hemoglobin. Anemia lowers oxygen in the body, which can cause fatigue, dizziness, and headaches.

Pain is another common symptom. It can be so severe that people end up in the hospital. These pain episodes are called a “sickle cell crisis.”

“People’s lives are disrupted by these episodes,” says Thein. “For children, that means missing school. Adults might miss a lot of work.”

Blocked blood flow to the brain can cause strokes, even in children. Strokes and clogs in the blood vessels in the lungs are some of the most dangerous complications of the disease, Thein says.

New Drug Options

The most common treatment for sickle cell disease is a drug called hydroxyurea. It coaxes the adult body to make fetal hemoglobin. This increases the number of functional red blood cells.

Hydroxyurea doesn’t work for everyone. But three new treatments have been approved in the last few years. Some of the newer drugs prevent sickled cells from sticking to the blood vessels.

Thein’s team is testing a drug to stop blood cells from bending in the first place. “That would be the most effective thing—to stop the sickling process,” she explains.

Even though drugs help many people, taking medication daily can be hard, King explains. Low levels of oxygen in the brain in people with sickle cell disease can affect memory. King and her colleagues are testing ways to use technology, such as smartphone apps, to help people take their drugs as prescribed.

Some people with sickle cell disease may need to have regular or emergency blood transfusions, in which they receive donated blood.

Fixing the Blood Cells

Currently, the only cure for sickle cell disease is a bone marrow transplant. Bone marrow is the spongy tissue containing the stem cells that give rise to blood cells.

In a bone marrow transplant, the stem cells in the patient’s bone marrow that produce blood cells are first destroyed. Then, stem cells from a donor without sickle cell disease are transferred into the patient. These new stem cells will produce blood cells that don’t sickle.

The procedure is risky. It’s considered too dangerous for adults. But the main problem, explains Dr. Matthew Hsieh, a transplant researcher at NIH, is that most children don’t have a matched donor. If certain proteins on the donor’s cells are different than the child’s, the transplant can fail.

Hsieh and others have developed new methods to transplant bone marrow from people who aren’t a perfect match. They’re also developing ways to prepare the bone marrow for a transplant that could make the procedure safer for adults.

Researchers are also testing an approach called gene therapy. In gene therapy, a patient’s own stem cells are collected. Then, they’re altered in the lab to fix a gene. Finally, they’re given back to the patient.

A recent gene therapy study at NIH successfully added a working copy of the hemoglobin gene into stem cells. Another study will see if adult cells can be altered to produce fetal hemoglobin.

If you’re living with sickle cell disease, talk with your health care provider to develop a care plan that’s right for you. Maintaining a healthy lifestyle can help you prevent or control some of its complications.

Tips for Living With Sickle Cell Disease

• Check in with your doctor regularly. Most people with sickle cell disease should see their doctor every three to 12 months.
• Get recommended vaccinations. People with sickle cell disease have a higher risk of infection.
• Adopt a healthy lifestyle. Getting enough sleep, eating healthy, and avoiding alcohol and tobacco can make you feel better and reduce pain.
• Manage pain. Work with a pain specialist to come up with an individual treatment plan.
• Know and avoid your triggers. Many things can set off pain. Common ones include exhaustion and dehydration.

People with sickle cell disease (SCD) are at greater risk than the general population for problems related to the heart, lung, and kidneys. Share your medical history with your healthcare team so it can properly identify and treat any complications of SCD you currently have or may develop. Your healthcare team may include your primary care provider, SCD provider, and any other healthcare specialists. Below are common complications of SCD and steps you can take for better health.

High Blood Pressure

• Know your numbers. Ask your provider about your blood pressure reading at each visit. Keep track of this information and talk to your provider if your blood pressure reading is above 120/80 mm Hg.
• If you have high blood pressure, you can help lower it by doing the following:

• • Be physically active.
  • Eat healthy.
  • Quit smoking.
  • Limit how much alcohol you drink.
  • Get enough sleep.

Blood Clots

• Get medical attention immediately if you experience any symptoms of blood clots.
• Talk to your provider about any factors that might increase your risk for blood clots.
• Talk to your provider to get the facts about anticoagulants (commonly known as “blood thinners”). The lifesaving benefits of these medicines often outweigh the potential risks. Still, it’s important to learn about both before you start taking them.

Breathing- and Sleep-related Problems

Talk to your provider if you currently have, or have ever had, any signs or symptoms of breathing- or sleep-related problems.

Kidney Problems

Albuminuria (too much protein in the urine)

People with SCD often have albuminuria, or too much protein in the urine (possibly an early sign of kidney disease). Remind your provider to check your urine every year. A simple urine test done every year will help your provider monitor the amount of protein in your urine. Your provider may prescribe medicines that lower the amount of protein in your urine to help protect your kidneys.

Worsening anemia related to chronic kidney disease

Chronic kidney disease is a condition in which the ability of the kidneys to make urine properly decreases over time. In people with SCD, chronic kidney disease can cause worsening anemia, a condition in which the body does not make enough red blood cells. Talk to your provider about any symptoms of anemia. Your provider will likely prescribe medicines that help with the anemia caused by chronic kidney disease.

End-stage kidney disease

Chronic kidney disease can progress into end-stage kidney disease, a fatal condition in which your kidneys stop working. In later stages of kidney disease, ask your provider if a kidney transplant (a surgery in which a damaged kidney is replaced with a healthy kidney from someone else) is an option for you.

3 Tips for Safe Use of Medicines

If your provider prescribes medicine for any of the common complications of SCD mentioned above, take the following steps:

• Ask your provider about the benefits and risks of your medicine.
• Take your medicine exactly as prescribed.
• Report any side effects of your medicine.