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目的:调查佛山市新婚人群中α地中海贫血(简称α-地贫)的基因携带率、基因突变类型及其分布特征。方法:采集佛山市南海区35 980例新婚育龄人群外周静脉血。以平均红细胞体积(MCV)<80f1为血液学表型初筛阳性指标。对其中3 003例表型阳性和1 749例表型阴性样品进行3种常见缺失型α-地贫基因型分析。结果:育龄人群中常见α-地贫基因携带率为8.85%;检出常见α-地贫基因型频率依次为5.431%(--SEA/αα)、2.475%(-α3.7/αα)、0.807%(-α4.2/αα);常见α-地贫基因的基因频率依次为2.76%(--SEA/)、1.31%(-α3.7/)、0.43%(-α4.2/);常见α-地贫临床类型的发生率依次为3.28%(静止型α-地贫)、5.48%(标准型α-地贫)、0.09%(血红蛋白H病)。结论:本文总结了佛山市新婚育龄人群中α-地贫的基因携带率、基因突变类型及其分布特征等分子流行病学资料,为开展优生工作和制定α-地贫预防计划提供基础资料。
Objective: To investigate the gene carrier rate, gene mutation types and distribution characteristics of α-thalassemia in newly married people in Foshan City. Methods: Peripheral venous blood from 35 980 newborns of reproductive age in Nanhai District of Foshan City was collected. The average hematopoietic cell phenotype (MCV) <80f1 was used as the primary screening positive index. Of the 3 003 phenotypic positive and 1 749 negative phenotype samples, three common deletional α-thalassemia genotypes were analyzed. Results: The prevalence of common α-thalassemia gene in reproductive age was 8.85%. The common alleles of α-thalassemia were 5.431% (- SEA / αα), 2.475% (- α3.7 / αα) The frequencies of common α - thalassemia genes were 2.76% (- SEA /), 1.31% (- α3.7 /), 0.43% (- α4.2 / The prevalence of common α-thalassemia was 3.28% (resting α-thalassemia), 5.48% (standard α-thalassemia) and 0.09% (hemoglobin H disease). Conclusion: This article summarizes the molecular epidemiological data of α-thalassemia gene carrier rate, gene mutation types and their distribution characteristics in the newly married children of childbearing age in Foshan, and provides the basic data for the development of eugenics work and the development of a-thalassemia prevention program.