【摘要】 目的了解广西地中海贫血(地贫)基因分布情况及种族差异。方法回顾性分析2007年1月-2012年12月在广西医科大学第一附属医院行地贫产前诊断的广西籍同型地贫基因携带者夫妇2 415对的种族发病情况。结果 4 830例地贫基因携带者中,α-地贫2 586例,占53.54%;β-地贫1 890例,占39.13%;复合型地贫346例,占7.16%;异常血红蛋白病8例,占0.17%。α-地贫在壮族、汉族、瑶族及其他民族中的比例分别为55.18%、41.99%、2.17%、0.66%,差异有统计学意义(χ2=13.983,P=0.03);β-地贫在壮族、汉族、瑶族及其他民族中的比例分别为18.67%、19.63%、0.66%、0.17%,差异有统计学意义(χ2=83.913,P=0.00)。结论广西以α-地贫和β-地贫居多,地贫分布在广西地区具有显著的种族差异。更多还原

【Abstract】 Objective To understand genoype distribution and racial differences of thalassemia in Guangxi. Methods A total of 2 415 couples who took prenatal diagnosis and were diagnosed as the same type of thalassemia gene carriers in the First Hospital Attached to Guangxi Medical University from January 2007 to December 2012 were retrospectively analyzed. Results Among 4 830 cases of thalassemia gene carriers,there were 2 586 cases of alpha thalassemia( accounting for 53. 54%),1 890 cases of beta thalassemia( accounting for 39. 13%),346 cases of complex thalassemia( accounting for 7. 16%),8 cases of abnormal hemoglobin disease( accounting for 0. 17%). The percentage of alpha thalassemia in Zhuang,Han,Yao and other nationalities were respectively 55. 18%,41. 99%,2. 17%,0. 66%,which had statistically significant difference( χ2= 13. 983,P = 0. 03),while the percentage of beta thalassemia in Zhuang,Han,Yao and other nationalities were respectively 18. 67%,19. 63%,0. 66%,0. 17%,there was statistically significant difference( χ2= 83. 913,P = 0. 00).Conclusion Alpha thalassemia and beta thalassemia took the majority of thalassemia in Guangxi,and the distribution was significantly different among difference races.更多还原