Beta-thalassemia

Genetic syndrome of ineffective erythropoiesis caused by mutations of the beta-globin gene.

Spectrum of severity from asymptomatic to severe anemia and skeletal changes.

Blood transfusions are required for beta-thalassemia intermedia and major, but are associated with iron overload complications.

Stem cell transplantation options offer cure.

Beta-thalassemia is an inherited microcytic anemia caused by mutation(s) of the beta-globin gene leading to decreased or absent synthesis of beta-globin, resulting in ineffective erythropoiesis. The genotypic spectrum includes homozygous and heterozygous defects, which result in a phenotypic spectrum ranging from transfusion dependence to the asymptomatic carrier state. Compound heterozygosity of beta-thalassemia with hemoglobin E mutations results in a phenotype more severe than either beta-thalassemia trait or hemoglobin E mutations alone, similar to beta-thalassemia major or intermedia.