The thalassaemias

摘要

The thalassaemias, the commonest monogenic diseases, result from over 200 different mutations of the α and β globin genes. Thalassaemia is associated with a wide spectrum of clinical disability, ranging from intrauterine death to extremely mild, symptomless anaemia Treatment with regular blood transfusion and adequate iron chelation therapy has improved the prognosis for the severe forms of thalassaemia Thalassaemia is a recessive disorder; symptomless carriers can be identified by simple haematological analysis. The thalassaemias can be diagnosed by fetal DNA analysis following chorion villus sampling early in pregnancy. Pregnant women of the appropriate racial groups, or people with mild hypochromic anaemias that do not respond to treatment with iron, should be screened for thalassaemia and offered expert counselling.