Sickle Cell Disease

What is sickle cell disease?

Sickle cell disease is a group of hereditary blood disorders that affects hemoglobin, a protein in red blood cells that carries oxygen throughout the body. The abnormal hemoglobin causes red blood cells to have a crescent or “sickle” shape. These sickle cells are rigid and sticky, causing them to get stuck in blood vessels and block blood flow. This can cause a wide range of symptoms and complications including organ damage and severe pain. Sickle cells also die faster than normal red blood cells, often leading to a low level of red blood cells in the body (anemia).

The types of sickle cell disease are based on the specific genes a baby inherits. The three most common forms of sickle cell disease are:

• HbSS (also known as sickle cell anemia)
• HbSC
• HbS beta thalassemia

Sickle cell anemia is the most severe form of sickle cell disease. HbSC and HbS beta thalassemia are often milder, though some types of HbS beta thalassemia may also be severe. There are also several, rarer types of sickle cell disease.

What are the symptoms of sickle cell disease?

Sickle cell disease is usually diagnosed at birth during routine screening. The severity of symptoms can vary greatly depending on the type of sickle cell disease your child has.

The most common symptoms of sickle cell disease are anemia and pain crisis. Pain crisis is caused by sickle cells that get stuck in blood vessels and block blood flow. Pain can range in severity and duration.

Sickle cell disease can affect all major organs and cause a wide range of complications including:

• Infection
• Acute chest syndrome, caused by blocked blood flow to the lungs and chest
• Eye damage
• Kidney damage
• Stroke
• Gallstones
• Blood trapped in spleen (splenic sequestration)
• Leg ulcers

What causes sickle cell disease?

Sickle cell disease is caused by a genetic mutation in hemoglobin, the main component in red blood cells. It occurs when a child inherits two sets of genes for abnormal hemoglobin. The type of sickle cell disease a child has depends on which sets of gene variants are inherited.

How is sickle cell disease treated?

There are several treatment options to manage symptoms of sickle cell disease and prevent complications. Treatment will depend on the type of sickle cell disease and the severity of your child’s symptoms. Your care team at Arkansas Children’s is experienced in treating all types of sickle cell disease, and we’ll work with you to create the best treatment plan for your child’s specific type of sickle cell disease and symptoms.

• Children often take penicillin until age 5 to reduce the risk of infection. It is also important to stay up to date on vaccinations and take note of signs of infection, like fevers.
• Pain medicines can help reduce the pain of sickle cell disease. In severe cases, your child may get pain medication at the hospital.
• Blood transfusions can be used to treat severe anemia, acute chest syndrome, and other complications. Recurring blood transfusions can be used to prevent serious complications such as stroke. 
• In certain cases, hydroxyurea, a drug that increases fetal hemoglobin, can be used to reduce symptoms.
• Clinical trials test new types of treatments for many diseases. Ask your child’s doctor if your child is eligible for any clinical trials to treat sickle cell disease.

In some cases, a bone marrow transplant (also called a stem cell transplant) may be used to cure sickle cell disease. This procedure uses healthy stem cells from your child or a compatible donor, usually a sibling. A bone marrow transplant is currently the only known cure for sickle cell disease.