Genetic Heterogeneity of Thalassemia in Yunnan Province

［Abstract］Objective　To investigate the genetic heterogeneity of thalassemia in the populations of Yunnan province. Methods　From July 2009 to Octorber 2012，mutations of the α- or β-hemoglobin genes were tested in suspected thalassemia cases to investigate the spectrums of gene mutations. And the distribution of mutations in different region and minority were analysed．Results　Four types of α-thalassemia mutations，--SEA （62.82%），-α3.7（19.66%），αCS（12.39%），and -α4.2 （5.13%）were identified. Seven common mutations were responsible for the β-thalassemia alleles，CD26（32.00%），CD17 （22.18%），CD41-42（18.91%）， IVS-Ⅱ-654 （16.18%），-28（5.09%），CD71-72（2.00%），and CD27-28（0.91%）. For β-thalassemia，CD41-42 was the most frequent mutation in southeast Yunnan and βE was the most frequent mutation in southwest Yunnan．Conclusions　The most frequent mutation is βE for β-thalassemia，which is different from other regions in China. Similar to the results obtained in other regions in China previously reported，SEA mutation is the most frequent for α-thalassemia. Our data provide valuable information on the control of thalassemia in the population with ethnic and geographical background in Yunnan Province．