Beta-thalassaemia

Beta-thalassaemia is an inherited blood disorder caused by mutations of the beta-globin gene that results in ineffective erythropoiesis.

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

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

Stem cell transplantation offers cure.

Beta-thalassaemia is an inherited microcytic anaemia 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, resulting in a phenotypic spectrum ranging from transfusion dependence to the asymptomatic carrier state.

Compound heterozygosity of beta-thalassaemia with haemoglobin E mutations results in a phenotype more severe than either beta-thalassaemia trait or haemoglobin E mutations alone, similar to beta-thalassaemia major or intermedia.