海南省定安地区婚育人群地中海贫血群筛结果分析  

Genetic Screening of Thalassemia among the Couples of Childbearing Age in Ding′an County of Hainan Province and Its Analysis

作　　者：涂志华[1] 王洁[2] 胡嘉嘉 赵立强 阮海玲 王安国 黎业娟 马宁[1] 吴忠[1] 周知[1] TU Zhi-Hua;WANG Jie;HU Jia-Jia;ZHAO Li-Qiang;RAN Hai-Ling;WANG An-Guo;LI Ye-Juan;MA Ning;WU Zhong;ZHOU Zhi(Reproductive Medical Center,Maternal and Child Health Care Hospital of Hainan Province,Haikou 570206,Hainan Province,China;Department of Clinical Laboratial Examination,Maternal and Child Health Care Hospital of Hainan Province,Haikou 570206,Hainan Province,China)

机构地区：[1]海南省妇幼保健院生殖医学中心,海南海口570206 [2]海南省妇幼保健院检验科,海南海口570206

出　　处：《中国实验血液学杂志》2019年第5期1592-1595,共4页Journal of Experimental Hematology

基　　金：海南省自然科学基金(814361);海南省医学科研课题(琼卫2013资助-054号);海南省医药卫生科研项目(14A200004);海南省重点研发计划项目(ZDYF2017086)

摘　　要：目的:了解海南省定安地区育龄夫妇地中海贫血基因携带率和基因类型分布。方法:收集本地区1 742对育龄夫妇,检测其外周血的平均红细胞血红蛋白含量(MCH)、平均红细胞容积(MCV),夫妇一方MCV<82 fl和/或MCH<27 pg,对双方进行血红蛋白电泳检查。HbA2≤2.5%或HbA2>3.5%为初筛阳性,对初筛阳性夫妇进行地中海贫血基因检测。结果:1 742对育龄夫妇中,检出地中海贫血基因携带者478例,检出率为13.72%,夫妇携带同型地中海贫血基因的42对,占比3.67%,α-地中海贫血基因病例检出率为9.56%,β-地中海贫血基因检出率为3.10%,α-合并β-地中海贫血基因检出率为1.06%。结论:海南省定安地区人群中地中海贫血基因携带率非常高,以α-地中海贫血为主,基因型分布有地方特色,政府应加大地中海贫血群体筛查以尽量降低中、重型地中海贫血儿出生率。Objective:To investigate the gene-carrying rate and genetic types of thalassemia among the couples of child-bearing age in Ding′an,Hainan province.Methods:A total of 1742 couples at child bearing age in the region were screened for thalassemia by detecting the mean corpuscular hemoglobin(MCH)and mean corpuscular volume(MCV).If the sample data of either spouse of couples was tested as MCV<82 fl and/or MCH<27 pg,both samples of the couple would be further assayed by hemoglobin electrophoresis.Those samples of HbA2 2.5%or HbA2>3.5%were judged as positive in the preliminary screening,then subjected to genetic diagnosis of thalassemia.Results:478 cases out of 1 742 couples of child bearing age were diagnosed as thalassemia gene mutation,and the gene-carrying rate was 13.72%.In those carriers,42 couples were diagnosed with the same type of thalassemia,accounting for 3.67%.The gene-carrying rate ofα-thalassemia,β-thalassemia andαβ-thalassemia was 9.56%,3.10%and 1.06%respectively.Conclusion:The Ding′an area in Hainan Province is an area with high incidence of thalassemia,and the main genotype isα-thalassemia,showing a distribution of local characteristics.The government should make efferts to popularise the screening for thalassemia,so as to effectively prevent the birth of children with thalassemia major.

关 键 词：育龄夫妇 地中海贫血 筛查 

分 类 号：R556.61[医药卫生—血液循环系统疾病]