Thalassaemia in Singapore: problems and solutions

The genetic basis for alpha and beta thalassaemias and for HbE-thalassaemia is described, as the management of these diseases requires a sound knowledge of genetic mechanisms. It is estimated that there are at least 150,000 of the 2 1/4 million population of Singapore who possess one of the three abnormal genes, and in South-East Asia, approximately 55 million are carriers of these genes. The treatment of the severe cases leaves much to be desired. Bone marrow transplantation could provide a new approach to the treatment for beta thalassaemia major. Prevention is the ultimate solution to these problems in this part of the world, and primary and secondary modes of prevention are discussed especially the role of prenatal diagnosis of the severe forms of haemoglobinopathies. Foetal blood sampling has its problems. Improvements in methods of prenatal diagnosis include using restriction enzymes for gene mapping from cell samples obtained by amniocentesis or from chorionic villi trophoblastic cells.