Total management of thalassaemia major

Abstract

Beta-thalassaemia major is a severe anaemia of childhood which is inherited as a mendelian recessive; the heterozygous (carrier) form of the condition is thalassaemia minor or thalassaemia trait. The homozygous disease, thalassaemia major, is due to defective ability to synthesize the β-chains of adult haemoglobin, which leads to gross ineffective erythropoiesis and anaemia for which blood transfusion is the only treatment. Though the prognosis is improving steadily with advances in management, it is still generally considered a fatal disease. The genetics and biochemistry of the thalassaemias have been fully reviewed by Weatherall and Clegg (1972). This article is confined to the clinical aspects of homozygous β-thalassaemia and its management as observed in Britain.