广州地区8129对育龄夫妇珠蛋白生成障碍性贫血初筛阳性标本检测结果分析  

Analysis of genetic in 8,129 couples of reproductive age for thalassemia screening positive specimens in Guangzhou area

作　　者：周剑英 江帆 唐婕 李东至 汤雪薇 李树成 苏洁玲 ZHOU Jianying;JIANG Fan;TANG Jie;LI Dongzhi;TANG Xuewei;LI Shucheng;SU Jieling(Prenatal Diagnosis Center,Guangzhou Women and Children′s Medical Center,Guangzhou,Guangdong 510623,China)

机构地区：[1]广州市妇女儿童医疗中心产前诊断中心,广东广州510623

出　　处：《国际检验医学杂志》2023年第S02期120-124,共5页International Journal of Laboratory Medicine

摘　　要：目的了解广州地区育龄人群中珠蛋白生成障碍性贫血(下称地贫)α、β基因携带率、基因突变类型及其分布情况,为更准确地进行地贫的防控工作提供数据支持,降低出生缺陷。方法收集广州市各区参加免费孕前优生健康检查的夫妇血常规初筛阳性标本,进行毛细管电泳复筛,结合筛查结果,检测常见4种缺失型α-地贫基因、3种突变型α-地贫基因、21种β-地贫基因,对检测结果进行统计分析。结果共收集地贫筛查阳性标本16258例(8129对夫妇),其中,地贫基因携带者6929例,检出α地贫基因携带者5167例(74.57%),β地贫基因携带者2064例(29.79%),α地贫复合β地贫基因携带者312例(4.5%),α地贫基因高风险夫妇184对,双方高风险携带--SEA/αα125对(67.93%),β地贫基因高风险夫妇29对,双方高风险携带β0/βN6对(20.69%)。结论广州地区地贫基因检出率很高,主要以α-地贫为主,对育龄夫妇进行地贫筛查并结合基因检测,将有助于提高出生人口素质。Objective To investigate the genetic carrier rate ofα,β-thalassemia and its mutation types as well as the distribution characteristics among the couples of children bearing age in Guangzhou area of China,and to provide evidences for preventing and controlling thalassemia.Methods Samples were collected from couples who attended the free pre-pregnancy health care of Guangzhou,in which the positive ones in preliminary screening were further tested by genetic diagnoses and the genotypes were analyzed.Results A total of 16,258 cases(8,129 couples)of suspected thelassemia,in which 6,929 cases were diagnosed as carriers of thalassemia gene.Five thousand one hundred and sixty seven cases(74.57%)were detected withα-thalassemia,2064 cases(29.79%)were detected withβ-thalassemia and 312 cases(4.5%)were carriers of bothα-andβ-thalassemia gene,184 couples were high risk carriers withα-thalassemia gene,25 couples(67.93%)were--SEA/ααcarriers,29 couples were high risk carriers withβ-thalassemia gene,6 couples(20.69%)wereβ0/βN.Conclusion The carrying rate of thalassemia gene in population of Guangzhou is high,the major type isα-thalassemia.Thalassemia screening combination with genetic testing in couple of children bearing age,will improve the quality of birth population.

关 键 词：珠蛋白生成障碍性贫血 α-珠蛋白生成障碍性贫血 Β-珠蛋白生成障碍性贫血 产前筛查 广州地区 

分 类 号：R556[医药卫生—血液循环系统疾病]