The prevalence and spectrum of thalassemia in Shenzhen, Guangdong Province, People's Republic of China.

Thalassemia (thal) is the most common autosomal disorder in southern China. The aim of the present study was to investigate the prevalence and spectrum of thalassemia mutations in the population of Shenzhen, Guangdong Province. In total, 3,711 samples from two hospitals in Shenzhen were subjected to hematological and molecular analysis. Of these, 241 (6.49%) were carriers of thalassemias, of which 161 (4.34%) had alpha-thal, 74 (1.99%) had beta-thal, and six (0.16%) had both alpha- and beta-thal. Three deletional and one nondeletional alpha-thal mutation, and nine beta-thal mutations were identified. Compared with other areas in Guangdong Province, the prevalence of thalassemia in Shenzhen was lower, while there was no evident difference for the spectrum of mutations. These results will provide a reference for prenatal testing and genetic counseling in the area.