The UK control programme for the haemoglobin disorders

Abstract

The haemoglobin disorders are a group of recessively inherited conditions of varying severity. In the homozygous state, alpha zero thalassaemia causes hydrops fetalis, beta thalassaemia usually causes a severe transfusion-dependent anaemia and sickle cell anaemia (HbSS), haemoglobin S/C disease, haemoglobin S/D disease and haemoglobin S/beta thalassaemia cause sickling disorders ranging from quite mild to very severe. Haemoglobin disorders are among the commonest inherited diseases in the UK. Management can be very burdensome, but produces good results in many cases. The disorders can also be prevented by a programme of carrier screening, genetic counselling and prenatal diagnosis in populations at risk. The WHO has defined a “haemoglobinopathy control programme” as an integral strategy combining optimal patient care with prevention based on community education, propective carrier diagnosis, genetic counselling and the offer of prenatal diagnosis. The services required for haemoglobin disorders in the UK have recently been reviewed in a report from the Standing Medical Advisory Committee of the Department of Health. This report focuses on genetic counselling and prenatal diagnosis for haemoglobin disorders.