Therapy for β-thalassemia - a paradigm for the treatment of genetic disorders

β-Thalassemia is one of the most common single-gene disorders. More than 100 mutations in or around the β-globin gene are known to cause decreased production of β-globin, which in turn leads to the excess accumulation of unstable α-globin chains, ineffective erythropoiesis, and shortened red-cell survival. Although the clinical severity of β-thalassemia varies considerably, most patients who are homozygous for β-thalassemia become dependent on transfusions and thus have the transfusion-related complications of iron overload, alloimmunization, and viral infection. Recent advances in basic and clinical research offer the clinician not only new approaches to the treatment of these patients but also the…