泰国缺失型α地中海贫血的基因分析及产前诊断  

Genetic analysis and prenatal diagnosis of Thailand deletion α-thalassaemia deficiency

作　　者：黄劲柏 苏明珍 张丽优 HUANG Jin-bai;SU Ming-zhen;ZHANG LI-you(Department of Laboratory,Yingde City Maternal and Child Health Family Planning Service Center,Guangdong Yingde 513000)

机构地区：[1]英德市妇幼保健计划生育服务中心检验科,广东英德513000

出　　处：《医学检验与临床》2019年第11期27-30,共4页Medical Laboratory Science and Clinics

摘　　要：目的:通过分析--THAI缺失型α地贫的筛查、基因检测、产前诊断及妊娠结局情况,旨在减少重型α地贫的漏诊和中间型α地贫患儿的出生.方法:选取2018年1月~2018年12月来我院就诊并进行地贫筛查和地贫基因诊断且地贫筛查结果一方或双阳性的1543对育龄夫妇作为研究对象.经地贫筛查及常见23种地贫基因检测后进行遗传咨询,若地贫基因检测结果与地贫筛查结果不符的,行地贫基因301型检测.分析1543对夫妇地贫检出及α地贫基因型构成情况,比较--THAI型α地贫人群与常见α地贫基因型人群相关指标水平,分析至少一方携带--THAI基因夫妇地贫产前诊断及妊娠结局情况.结果:1543对一方或双方筛查阳性育龄夫妇共检出α地贫976例,其中检出的α地贫中,--SEA、-α3.7、-α4.2等三种型别检出率最高;--THAI、ααQS检出率为0.23%、0.39%.αα/--THAI型α地贫人群MCV、MCH水平低于-α3.7/-α3.7型人群(均P<0.05).至少一方携带--THAI基因的7对夫妇中,需进一步做产前诊断的有3对,占比为42.86%,其中有一对产前诊断结果为巴氏水肿胎须终止妊娠,占比为14.29%;不需产前诊断的有4对,占比为57.14%.结论:--THAI缺失型α地贫存在一定的发生机率,应加强实验室与临床医生之间的联系,若发现常见地贫基因检测结果与地贫筛查结果不符时,应考虑存在--THAI缺失型α地贫的可能性,以避免漏诊.--THAI缺失型α地贫基因检测,有助于重型α地贫胎儿的早期诊断,能有效减少重型α地贫的漏诊和中间型地贫患儿的出生,对降低出生缺陷发生率,提高人口素质具有重要的意义.Objective:To analyze the screening,genetic testing,prenatal diagnosis and pregnancy outcome of THAI α-thalassaemia deficiency,which aim to reduce the missed diagnosis of severe aip and the birth of infants with THAI aip.Methods:From January 2018 to December 2018,1543 couples of childbearing age who came to our hospital for screening and genetic diagnosis of α-thalassaemia deficiency were selected as research objects.Genetic counseling was conducted after the screening and genetic testing of the common 23 kinds of α-thalassaemia deficiency.If the genetic testing results were inconsistent with the screening results,301 gene test was conducted.The detection and genotype composition of α-thalassaemia deficiency in 1543 couples were analyzed.The prenatal diagnosis and pregnancy outcome of at least one THAI couple with α-glutamate were analyzed.Results:A total of 976 cases of α-thalassaemia deficiency,10 cases of a-poor complex abnonnal hemoglobin,362 cases ofbeta poor complex a-poor,56 cases ofbeta poor complex abnormal hemoglobin,1 case of beta poor complex abnormal hemoglobin,6 cases of abnormal hemoglobin,and 1675 cases of not detected poor.The detection rates of ^-SEA,-α3.7 and -α4.2 were the highest among the detected a-tryptophilia.The detection rate of 7 THAI cases was 0.23%,slightly lower than 0.39% of αQSαα/^-THAI the levels of MCV and MCH were lower than those of the a-3.7/-a3.7(all P<0.05).Of the 7 THAI couples with at least one partner carrying the ^-THAI gene,3 needed further prenatal diagnosis(42.86%)and one of them had pap edema fetus requiring termination of pregnancy(14.29%).There were 4 pairs without prenatal diagnosis,accounting for 57.14%.Conclusion:There is a certain probability of THAI α-deficiency,and the link between the laboratory and the clinician should be strengthened.If the results of common gene testing for THAI α-deficiency do not match the screening results,the possibility of ^-THAI α-deficiency should be considered to avoid missed diagnosis.THAI THAI α-deficiency gene te

关 键 词：Α地中海贫血 泰国缺失型 地贫筛查 基因诊断 产前诊断 妊娠结局 

分 类 号：R55[医药卫生—血液循环系统疾病]