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目的:调查广东省佛山市南海区育龄人群中α-和β-地中海贫血(地贫)的基因携带率、基因突变类型及其分布特征。方法:于2009年1月1日～2010年4月30日,在南海区计划生育服务站,连续采集参加孕前优生健康检查的11642例新婚待孕夫妇的外周静脉血。以平均红细胞体积(MCV)<80fl为地贫筛查血液学阳性指征。对筛查出的1399例阳性样品进一步进行α珠蛋白基因和β珠蛋白基因型分析。结果:育龄人群中地贫基因总携带率为9.91%,其中α-地贫基因携带率为6.45%,β-地贫基因携带率为3.46%,α-和β-地贫基因双重杂合子检出率为0.33%;检出3种缺失型α-地贫基因的构成比依次为77.60%(-SEA)、15.02%(-α3.7)、7.38%(-α4.2);检出β-地贫基因突变类型11种,基因频率排在前5位的依次为CD41-42(-TTCT,38.21%)、IVS-Ⅱ-654(C→T,22.83%)、-28(A→G,10.17%)、CD17(A→T,4.71%)、CD43(G→T,4.71%),占突变基因的91.07%。结论:本研究描述了佛山市南海区育龄人群常见的α-和β-地贫的发生率和较为详细的基因突变谱,为在本地区人群地贫防治提供依据。
OBJECTIVE: To investigate the gene carrier rates, gene mutation types and distribution characteristics of α- and β-thalassemia (thalassemia) in the reproductive-aged population in Nanhai District, Foshan City, Guangdong Province. Methods: From January 1, 2009 to April 30, 2010, peripheral blood samples of 11 642 newly married couples undergoing prenatal health checkups were collected continuously at Nanfang District Family Planning Service Station. Screening hematologic positive indications for thalassemia with mean corpuscular volume (MCV) <80fl. A total of 1399 positive samples were screened for alpha-globin gene and beta-globin genotype analysis. Results: The total carrier rate of thalassemia gene was 9.91% in childbearing age population, of which, the carrier rate of α-thalassemia gene was 6.45%, the carrier rate of β-thalassemia gene was 3.46%, the double heterozygosity of α-thalassemia gene The percentages of the three missing α-thalassemia genes were 77.60% (- SEA), 15.02% (- α3.7) and 7.38% (- α4.2), respectively. The detection rate of β - 11 kinds of thalassemia gene mutations, the gene frequency in the top 5 were CD41-42 (-TTCT, 38.21%), IVS-Ⅱ-654 (C → T, 22.83% , 10.17%), CD17 (A → T, 4.71%), CD43 (G → T, 4.71%), accounting for 91.07% of the mutant gene. CONCLUSIONS: This study describes the prevalence and more detailed gene mutation profiles of α-thalassemia and β-thalassemia among people of reproductive age in Nanhai District of Foshan City, which provide evidence for the prevention and treatment of thalassemia in Chinese population.