Haemoglobinopathies

Sickle cell disease and thalassaemia are the most common inherited causes of anaemia, and are now usually detected in England and Wales via the newborn screening programme. The most common symptom of sickle cell disease is acute pain, but it is a multi-organ disorder and long-term follow-up must reflect this. Treatments such as hydroxyurea are now available. β-thalassaemia major is the most clinically significant of the thalassaemias and requires lifelong transfusion therapy, which will result in iron overload and subsequent clinical problems unless iron chelation therapy is undertaken. Stem cell transplantation is the only curative option for the haemoglobinopathies.