Sickle cell disease is an inherited disease caused by a mutation in the beta-globin gene that results in sickle-shaped red blood cells which cause chronic anemia, a condition where there are not enough healthy red blood cells in the blood. The disease is characterized by anemia, vaso-occlusive crisis (pain in your bones caused by obstruction of the blood vessels), infections, stroke, overall poor quality of life and sometimes, early death.
Sickle cell patients may take hydroxyurea, a drug that helps prevent formation of sickle-shaped red blood cells. Hydroxyurea has been shown to reduce vaso-occlusive crises and related complications, but it does not eliminate them. In practice, hydroxyurea-related toxicities make it difficult for many individuals with sickle cell disease to take the high-dose needed for optimal outcomes.
The only potentially curative therapy for sickle cell disease is allogeneic hematopoietic stem cell transplant (HSCT also called bone marrow transplant). Because of the significant side effects and potential for death associated with transplants, they are usually offered only to patients who have sibling matched donors. However, only an estimated 10 percent of sickle cell disease patients are able to find such donors. You can find more information on hematopoietic stem cell or bone marrow transplant for sickle cell disease on the National Bone Marrow Donor Program’s Be the Match website.
learn more about how stem cell transplant works
The following organizations offer resources and information for sickle cell disease patients, families and their caregivers: