Advances in the treatment of alpha-thalassemia.

Alpha (α)-thalassemia represents a group of recessively inherited hemoglobin disorders marked by deficient or absent synthesis of 1 to all 4 of the α-globin genes. Inactivation of 3 α-globin genes--either by deletional or nondeletional mutations--results in hemoglobin H (Hb H) disease. Patients with Hb H disease produce hemoglobin composed of all beta chains and have moderate to severe hemolytic anemia, a variable degree of ineffective erythropoiesis, and splenomegaly. Transfusion requirements vary depending on the mutation and clinical severity. Treatment for deletional Hb H disease is primarily preventative and transfusions are uncommon. Patients with nondeletional Hb H disease (e.g., Hb H Constant Spring) typically have more severe anemia, and approximately one-third require regular transfusions. These patients often require comprehensive, multidisciplinary care. This chapter focuses on screening, diagnosis, and treatment approaches for patients with Hb H disease.