Diagnosis and management of thalassaemia

Thalassaemia is the commonest inherited anaemia world wide. There is wide spectrum of clinical severity spanning from insignificant to transfusion dependence. It is caused by abnormalities in the structure, manufacture or function of the globins that form the tetramers of normal adult haemoglobin A. The primary changes in erythropoiesis lead to the secondary changes of anaemia, splenomegaly, bone marrow expansion, extra medullary haemopoiesis, bone deformities and iron accumulation which in turn lead to long term organ damage. The anaemia itself results from a combination of ineffective erythropoiesis, peripheral haemolysis and an overall reduction in haemoglobin synthesis. Optimum management with early detection, appropriate transfusion, iron chelation and monitoring for complications can offer a good quality of life and a near normal lifespan. The major threats to this outcome in developed countries are serious infections and organ damage from iron overload.