What is Thalassaemia?
The Thalassaemias are a group of inherited blood disorders in which there are abnormalities of haemoglobin production. Haemoglobin is the oxygen carrying protein present in red blood cells, which carries oxygen from the lungs to all tissues of the body.
There are a number of different types of Thalassaemias, many of which are uncommon. The clinical presentation of the different types varies greatly and some variants do not necessarily cause significant disease or disabling effects. Other types however cause severe anaemia with long-term adverse effects on health and reduced life expectancy. In the UK the most common type of Thalassaemia with the potential to cause serious disease is beta-Thalassaemia. This guidance will mainly describe beta-Thalassaemia.
Thalassaemias are most commonly found in people originating from the Mediterranean, but they are also seen in people from Africa, Eastern Europe, the Middle East, the Indian subcontinent and South East Asia.
Amended May 2009