武汉地中海贫血流行病学调查及基因突变类型与频率分析

Epidemiological survey and analysis of mutation type and gene frequency of thalassemia in Wuhan

目的调查湖北武汉地中海贫血发病率、基因突变类型、基因频率,了解该地区地中海贫血基因分布和基因突变类型。方法对975例行婚前、孕前和产前等体检的湖北武汉籍人员进行调查,记录地中海贫血发生率、基因突变类型和基因频率。结果本组地中海贫血发生率为4.82%,以α-地中海贫血、β-地中海贫血为主,两者分别占地中海贫血总数的53.19%、27.66%;α-地中海贫血基因检测结果以-SEA/aa为主,占52.00%;β-地中海贫血基因检测以CD41-42(-TTCT)/N、IVS-Ⅱ-654(C-T)/N、CD17(A-T)/N为主,分别占β-地中海贫血患者的30.77%、23.08%、15.38%。结论湖北武汉地中海贫血发生率较高,婚前、孕前或产前筛查及干预将有助于降低其发生率。

Objective To investigate the incidence, mutation type and gene frequency of thalassemia in Wuhan in order to understand the gene distribution and mutation type of thaIassemia. Methods The incidence, gene mutation type and gene frequency distribution were investigated in 975 Wuhan residents receiving premarital, progestational and prenatal physical examination. Results The incidence of thalassemia was 4.82 %, mainly demonstrated by α-thalassemia and α-thalassemia types （53. 19%, 27. 66%）. The gene testing result showed -SEA/aa accounted for 52. 00% in a-thalassemia, and CD41-42（-TTCT）/N, IVS-]I-654（C-T）/N and CD17（A-T）/N accounted for 30. 77%, 23. 08% and 15. 38% in βthalassemia respectively. Conclusion The incidence of thalassemia is high in Wuhan, and premarital, progestational and prenatal physical examination can reduce the incidence of thalassemia.