Beta thalassaemia

Beta thalassaemia is the consequence of an inherited defective synthesis of beta globin, one of the two specific protein chains of the haemoglobin molecule. This disorder is usually due to point mutations with peculiar ethnic distributions in populations in South Eastern Asia, Mediterranean and West African region. Three clinical syndromes of increasing severity are recognised: beta-thalassaemia trait (microcytosis with increased HbA2), thalassaemia intermedia (moderate to severe anaemia, not transfusion-dependent), thalassaemia major (severe transfusion-dependent anaemia). Besides anaemia typical clinical findings are hepatosplenomegaly, growth retardation, bone marrow expansion and bone deformities. Conventional management of thalassaemia major is based on regular red blood cell transfusions and continuous iron chelation.

Synonym: Thalassaemia trait, Thalassaemia intermedia