Diagnosis and management of thalassaemia.

Increasing global migration has resulted in wider dispersal of people at risk of hereditary anaemias. As a result, haemoglobinopathies are becoming increasingly prevalent in countries where these diseases are not endemic. The treatment of thalassaemia major and intermedia has traditionally depended on preventing undesirable outcomes of disease, using transfusion therapy along with iron chelation. The only cure for the disease is stem cell transplantation. However, this is a complicated procedure, with better outcomes when offered at young ages, which strengthens the desirability of screening newborns in high risk populations. Multidisciplinary management of thalassaemia is recommended by international guidelines. Antenatal prevention programmes consist of identifying and counselling couples who carry the relevant genes, and offering them different options to prevent having a child with thalassaemia. In this reviewwe summarise diagnostic, treatment, and prevention options in thalassaemia for generalist readers. What is thalassaemia?