Characteristics and distribution of beta thalassemia haplotypes in South China

Eleven restriction site polymorphisms in the beta-globin gene cluster were determined in 48 Chinese with homozygous beta-thalassemia and their parents. Seven haplotypes were identified as associated with the beta thal chromosome and 25 with the beta A chromosome. The distribution of the various beta thal haplotypes in different regions of South China was mapped and discussed in relation to prenatal diagnosis and migration of the Chinese people.