Sickle cell anemia (SCA) is the most common inherited blood disorder in the United States, affecting about 72,000 Americans or 1 in 500 African Americans. Sickle cell anemia is characterized by episodes of pain, chronic hemolytic anemia and severe infections, usually beginning in early childhood.
Sickle cell anemia is an autosomal recessive disease caused by a point mutation in the hemoglobin beta gene (HBB) found on chromosome 11p15.4. Carrier frequency of HBB varies significantly around the world, with high rates associated with zones of high malaria incidence, since carriers are somewhat protected against malaria. About 8% of the African American population are carriers. A mutation in HBB results in the production of a structurally abnormal hemoglobin (Hb), called HbS. Hb is an oxygen carrying protein that gives red blood cells (RBC) their characteristic color. Under certain conditions, like low oxygen levels or high hemoglobin concentrations, in individuals who are homozygous for HbS, the abnormal HbS clusters together, distorting the RBCs into sickled shapes. These deformed and rigid RBCs become trapped within small blood vessels and block them, producing pain and eventually damaging organs.
Though, as yet, there is no cure for SCA, a combination of fluids, painkillers, antibiotics and transfusions are used to treat symptoms and complications. Hydroxyurea, an antitumor drug, has been shown to be effective in preventing painful crises. Hydroxyurea induces the formation of fetal Hb (HbF), a Hb normally found in the fetus or newborn which, when present in individuals with SCA, prevents sickling. A mouse model of SCA has been developed and is being used to evaluate the effectiveness of potential new therapies for SCA.
- Blood Disorders: Overview