Sickle Cell Disease

Sickle cell disease is an inherited condition passed from parents to children through genes. This condition affects a special protein inside red blood cells called hemoglobin. Hemoglobin carries oxygen from the lungs to the rest of the body and returns carbon dioxide back to the lungs.

Normal hemoglobin is called hemoglobin A (A for adult). A person who has sickle cell makes a different kind of hemoglobin called hemoglobin S (S for sickle). This abnormal hemoglobin causes the red blood cells to change their shape. Instead of being round, the red blood cell shape looks like a banana or a sickle (a hand tool used to cut wheat or tall grass). This sickle shape of the red blood cells gives sickle cell disease its name.

As a result of the abnormal shape, the red blood cells become hard and sticky, causing them to have trouble moving through small blood vessels. When they clog up these blood vessels, blood cannot bring oxygen to the tissues. This causes pain and eventually damages the tissue.

There are several types of sickle cell disease:

Hemoglobin SS. This occurs when a child inherits two sickle globin genes; one from the mother and one from the father. This is the most common form of sickle cell disease.
Hemoglobin SC. This occurs when a child inherits one sickle globin gene (S) from one parent and one globin gene C (another type of abnormal hemoglobin) from the other parent.
Hemoglobin S beta thalassemia. This occurs when a child inherits one sickle globin gene (S) from one parent and beta thalassemia (another type of anemia) from the other parent.
Hemoglobin SD, hemoglobin SE and hemoglobin SO. These occur when a child inherits one sickle cell gene (S) from one parent and one abnormal hemoglobin gene (D, E or O) from the other parent. These are rarer forms of sickle cell disease.

Children with sickle cell disease may experience the following symptoms or complications:

Anemia. Anemia occurs when there are not enough red blood cells or hemoglobin in the bloodstream to move sufficient oxygen from the lungs to the rest of the body. Sickle cell disease can cause anemia.
Jaundice. Jaundice is yellowing of the skin and whites of the eyes. This occurs because sickle cells are not as stable as normal red blood cells and break down very quickly. The breakdown product of red blood cells is called bilirubin, and excess bilirubin leads to jaundice.
Pain crisis. This occurs when sickle cells stick together to the blood vessel walls. These cells block blood flow and cause severe pain. Pain is a common symptom.
Acute chest syndrome. This symptom involves the lungs and is a dangerous complication of sickle cell disease that requires immediate medical attention.
Splenic sequestration. This complication occurs when red blood cells become trapped in the spleen.
Stroke. This complication occurs most frequently in those who have the SS type of sickle cell disease. It can lead to devastating consequences.

Every child with sickle cell disease experiences different symptoms and complications.

Sickle cell trait is not the same as sickle cell disease. This condition occurs when a child inherits only one sickle globin gene (S) from one parent and a normal beta globin gene from the other parent. Sickle cell trait cannot develop into sickle cell disease. A child with sickle cell trait may be referred to a hematologist early in life to confirm and learn more about the diagnosis. Patients with sickle cell trait should be able to lead normal, healthy lives. They may need genetic counseling when they become parents to determine the risk of having a child with sickle cell disease.

Diagnosis of Sickle Cell Disease

Doctors at Riley at IU Health often diagnose sickle cell disease through a newborn screening test, which is performed on every child born in Indiana. Newborn screening allows doctors to identify those with sickle cell disease as early as possible. Early prevention and education improves the quality of lives of children. Children with a positive screen are referred to a hematologist, a doctor who specializes in the condition. The hematologist will do additional testing to confirm the diagnosis and identify the type of sickle cell disease.

Treatments

Individualized treatment plans are given based on your child's age, weight and tolerance for certain medicines. Some treatment options could include:

Penicillin. Very young children with sickle cell disease are at increased risk of bloodstream infections by certain bacteria. Daily use of penicillin can reduce the risk of death from infection.
Immunizations. Children with sickle cell disease are prone to infections because the spleen does not work very well. Additional immunizations help prevent many serious infections.
Folic acid. Folic acid is a vitamin needed to make new red blood cells. This is important because red blood cells with hemoglobin S do not live as long as normal red blood cells.
Pain medicines. Pain is a common symptom of sickle cell disease. Pain medicines (given either by mouth or through an injection) help relieve and manage pain so patients can continue their daily activities.
Blood transfusions. This intervention involves giving normal blood from a donor to a patient with sickle cell disease. By reducing the amount of sickle cells and increasing the amount of normal red blood cells, the risk and severity of complications from sickle cell disease also decrease.
Hydroxyurea. This is an FDA-approved medicine that reduces the amount of sickling within red blood cells, which lessens the disease severity. Doctors no longer need to wait until complications develop to start this medicine.
Bone marrow transplant. This type of transplant is an infusion of healthy bone marrow to replace damaged or diseased bone marrow. Identification of an appropriate donor is very important. If the transplant is successful, the patient will be cured of sickle cell disease.

Children with sickle cell disease achieve a good quality of life with precautions and adherence to medicines and clinic appointments. While they may miss school or go to the doctor more often than others, they can live full and happy lives.

Key Points to Remember

Sickle cell disease is an inherited condition passed from parents to children through genes that affects a special protein inside red blood cells called hemoglobin.
It is the sickle shape of the red blood cells that gives sickle cell disease its name.
All children born in Indiana are screened for sickle cell at birth.
A variety of treatment options are available, including medicines, special vaccinations, blood transfusions and bone marrow transplant

Support Services & Resources

Visit the trusted websites below to learn more about sickle cell disease, including information about support groups and research.

Riley at IU Health offers a broad range of supportive services to make life better for families who choose us for their children's care.

Learn More About Riley Support Services

Sickle Cell Disease Association of America (SCDAA)

This organization aims to create awareness of sickle cell disease and promotes research and education.

Martin Center Sickle Cell Initiative

This Indiana organization exists to aid and enhance the lives of those affected by sickle cell disease and associated disorders by providing services, education and advocacy.

Be The Match

Be The Match, operated by the National Marrow Donor Program, is the largest donor registry in the world. The registry matches patients with appropriate bone marrow donors.

Centers for Disease Control and Prevention

The CDC helps communities and citizens fight against disease of all kinds. The organization provides data and statistics as well as recent articles and findings related to sickle cell disease.

Sickle Cell Disease Research

The hematologists at Riley at IU Health are currently conducting several research studies on sickle cell disease. These studies will help doctors advance the management and treatment of the condition, improving the lives of those with sickle cell disease. Speak with your child's doctor to learn more about our research initiatives.

Locations

In addition to our primary hospital location at the Academic Health Center in Indianapolis, IN, we have convenient locations to better serve our communities throughout the state.