黔东南州育龄人群地中海贫血基因分型及基因频率情况分析  

Analysis of gene type and frequency in couple of childbearing age in southeastern Guizhou

作　　者：梅艳 王显河 师海瑞 吴秋阳 吴治平 欧阳 邹远芹 孔义华 Mei Yan;Wang Xianhe;Shi Hairui;Wu Qiuyang;Wu Zhiping;Ou Yang;Zou Yuanqin;Kong Yihua(Department of Laboratory Medicine,The Second Affiliated Hospital of Guizhou Medical University,Kaili 556000,Guizhou,China;Department of Stomatology,The Second Affiliated Hospital of Guizhou Medical University,Kaili 556000,Guizhou,China)

机构地区：[1]贵州医科大学第二附属医院检验科,贵州凯里556000 [2]贵州医科大学第二附属医院口腔科,贵州凯里556000

出　　处：《贵州医药》2025年第2期189-191,共3页Guizhou Medical Journal

基　　金：贵州省科技计划项目(黔科合LH字[2016]7384)

摘　　要：目的对黔东南地区育龄人群中α和β地中海贫血的基因类型、发生频率等情况进行分析。方法采用PCR-反向点杂交技术进行地中海贫血基因分型的检测。结果在3939例受检者中,地中海贫血初筛阳性761例,占受检总人数的19.1%。761例初筛阳性的受检者中,检出地中海贫血基因携带者330例,占初筛阳性样本的43.4%(330/761)。其中,检出α地中海贫血基因携带者147例,占比44.6%(147/330);β地中海贫血基因携带者172例,占比52.1%(172/330);α地中海贫血复合β地中海贫血基因携带者11例,占比3.3%(11/330)。结论黔东南地区育龄人群地中海贫血基因检出率较高,α-地贫以--^(SEA)/αα最为常见,β-地贫以CD41-42最为常见。医疗卫生部门应重视地贫防控,对高发区人群于婚前、孕前及产前进行地贫筛查,可减少地贫患儿的出生。Objective To investigate the genetic types and frequency ofαandβthalassemia in the population of childbearing age in Southeast Guizhou.Method Detected of thalassemia genotype in by PCR-reverse point hybridization.Result 761 positive cases(19.1%)were screened in 3939 patients,in 761 cases,330 cases of thalassemia were detected,accounting for 43.4%of the positive samples.including 147 cases(44.5%)ofα-thalassemia,172 cases(52.1%)ofβ-thalassemia and 11 cases ofα-thalassemia compoundβ-thalassemia.Conclusions The detection rate of thalassemia gene is higher among the population of childbearing age in Southeast Guizhou,α-thalassemia is most common in--^(SEA)/αα,β-thalassemia is most common in CD41-42.Health departments should pay attention to the Prevention and Control of thalassemia,screening for thalassemia before marriage,before pregnancy and before delivery in high incidence areas,can reduce the birth of children with thalassemia.

关 键 词：地中海贫血 基因分型 基因频率 

分 类 号：R556.1[医药卫生—血液循环系统疾病]