Background: Thalassemia is a chronic inherited blood disorder that reduces hemoglobin production, causing chronic hemolytic anemia. Patients often are diagnosed via newborn screening programs. Patients diagnosed with the most severe form of thalassemia often require chronic red blood cell transfusions to control their anemia. The side effect of chronic transfusions is cumulative iron overload for which chelation therapy is required. The incidence of thalassemia is low; therefore, care is best delivered at specialized treatment centers that offer multidisciplinary coordination.
Objectives: This article reviews the diagnosis, management, and curative options for thalassemia.
Methods: This review follows a hypothetical patient with thalassemia and his family through the major stages of the disease: diagnosis, treatment, long-term monitoring, and continued support from childhood through adulthood.
Findings: Increasing knowledge about thalassemia and its management among healthcare providers can improve patient outcomes and quality of life.