Abstract

A large scale survey of haemoglobinopathies and thalassaemia has been carried out in China, involving 900,000 people in 28 provinces. It has resulted in the finding of many new variants and some interesting cases of thalassaemia, and in a study on the chemical structure of abnormal haemoglobins and DNA analysis of thalassaemia. We report here data on haemoglobin disorders in the Chinese, mainly the characterisation of the geographical distribution of haemoglobin variants, the analysis of globin genes of alpha, beta, gamma, or delta beta thalassaemia, and the progress in prenatal diagnosis of alpha and beta thalassaemia conducted in the authors' laboratory.