揭阳地区儿童珠蛋白生成障碍性贫血基因检测结果分析  

Analysis of the results of genetic testing of children with thalassemia in Jieyang area

作　　者：巫娟 陈宋钦[2] 倪仰鹏[2] 钟乔华[1] WU Juan;CHEN Songqin;NI Yangpeng;ZHONG Qiaohua(Department of Clinical Laboratory,Jieyang People′s Hospital,Jieyang,Guangdong 522000,China;Department of Pathology,Jieyang People′s Hospital,Jieyang,Guangdong 522000,China)

机构地区：[1]广东省揭阳市人民医院检验科,广东揭阳522000 [2]广东省揭阳市人民医院病理科,广东揭阳522000

出　　处：《检验医学与临床》2022年第16期2228-2230,共3页Laboratory Medicine and Clinic

摘　　要：目的研究揭阳地区儿童珠蛋白生成障碍性贫血(简称地贫)基因型和携带情况。方法选取2017年7月至2021年7月就诊于该院的疑似地贫患儿218例为研究对象,回顾性分析其地贫基因检出情况及地贫基因型分布特点。结果纳入的218例疑似地贫患儿中,检出地贫基因携带者143例,检出率为65.60%,其中α-地贫基因携带者81例,检出率为37.16%,β-地贫基因携带者59例,检出率为27.06%,αβ复合型地贫基因携带者3例,检出率为1.38%。共检出8种α-地贫基因型、9种β-地贫基因型和3种αβ复合型地贫基因型。α-地贫基因型以--^(SEA)/αα最为常见,构成比为76.54%,其次为-α^(3.7)/αα(6.17%)、--^(SEA)/-α^(3.7)(6.17%),缺失型比非缺失型多见。最常见的3种β-地贫基因型依次为CD41-42/N(38.98%)、IVS-Ⅱ-654/N(35.59%)、CD17/N(10.17%)。结论揭阳地区儿童地贫基因检出率较高,且基因型呈现多样性,应加强该地区产前咨询和产前诊断工作,减少地贫患儿的出生。Objective To study the genotype and carrier status of children with thalassemia in Jieyang area.Methods A total of 218 children with suspected thalassemia who were treated in this hospital from July 2017 to July 2021 were selected as the research objects,and their thalassemia gene detection results and thalassemia genotype distribution characteristics were retrospectively analyzed.Results Among the 218 children with suspected thalassemia,143 were thalassemia gene carriers,and the detection rate was 65.60%,of which 81 wereα-thalassemia gene carriers,and the detection rate was 37.16%,59 wereβ-thalassemia gene carriers,and the detection rate was 27.06%,and 3 wereαβcomplex thalassemia gene carriers,and the detection rate of 1.38%.A total of 8α-thalassaemia genotypes,9β-thalassaemia genotypes and 3αβcomplex thalassaemia genotypes were detected.Theα-thalassaemia genotype was--^(SEA)/ααthe most common,with a constituent ratio of 76.54%,followed by-α^(3.7)/αα(6.17%),--^(SEA)/-α^(3.7)(6.17%),deletion was more common than non-deletion.The 3 most commonβ-thalassemia genotypes were CD41-42/N(38.98%),IVS-Ⅱ-654/N(35.59%),and CD17/N(10.17%).Conclusion The detection rate of thalassemia gene in children in Jieyang area is high,and the genotypes are diverse.Prenatal counseling and prenatal diagnosis in this area should be strengthened to reduce the birth of children with thalassemia.

关 键 词：珠蛋白生成障碍性贫血 儿童 基因型 

分 类 号：R556[医药卫生—血液循环系统疾病]