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sickle cell disease

Also known as
sickle cell disease

Sickle cell disease

Sickle cell disease is a group of blood disorders that affects the red blood cells, which are important for moving oxygen throughout the body. People with sickle cell disease have abnormal hemoglobin, which is the protein in red blood cells that carries oxygen. In sickle cell disease, a difference in the HBB gene leads to an abnormal form of hemoglobin called hemoglobin S. Some people with sickle cell disease have two copies of HBB with the difference causing hemoglobin S, one inherited from each of their two parents. This is called sickle cell anemia. Others have one HBB gene causing hemoglobin S and another copy causing another form of abnormal hemoglobin.

Hemoglobin S causes "sickling" of the red blood cell, in which the red blood cell is shaped like a C-shaped farm tool called a sickle. These sickle cells break down too early, leading to anemia, and may also get stuck in small blood vessels, blocking blood flow and causing pain, infections, organ damage and stroke.

Treatments that may help mitigate symptoms of sickle cell disease include medications such as hydroxyurea and red blood cell transfusions. Stem cell therapies can be curative but also present risks and are not an option for many patients.

The latest on our research

We are jumpstarting our sickle cell disease program to accelerate research on the disorder to ultimately improve treatment options. We welcome all parents and caregivers interested in participating and spreading the word to the sickle cell community.

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