Diagnosis and Treatment: Anemia, sickle cell

Sickle cell anemia 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 (SCA) is characterized by episodes of pain, chronic hemolytic anemia and severe infections, usually beginning in early childhood. Sickle Cell Anemia (SCA) 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 Sickle Cell Anemia (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 Sickle Cell Anemia (SCA), prevents sickling. A mouse model of Sickle Cell Anemia (SCA) has been developed and is being used to evaluate the effectiveness of potential new therapies for Sickle Cell Anemia (SCA).