佛山地区HKαα地中海贫血的基因诊断与临床表型分析  

Genetic diagnosis and clinical phenotype analysis of Hong Kong thalassemia in Foshan

作　　者：高维鸿 黄广强 钟沛沛 杨发达[1] 梁丽笙[2] GAO Weihong;HUANG Guangqiang;ZHONG Peipei;YANG Fada;LIANG Lisheng(Department of Clinical Laboratory,Nanhai District Maternal and Child Health Hospital of Foshan City,Foshan,Guangdong 528200,China;Prenatal Diagnostic Center,Nanhai District Maternal and Child Health Hospital of Foshan City,Foshan,Guangdong 528200,China)

机构地区：[1]佛山市南海区妇幼保健院检验科,广东佛山528200 [2]佛山市南海区妇幼保健院产前诊断中心,广东佛山528200

出　　处：《中国优生与遗传杂志》2024年第2期393-396,共4页Chinese Journal of Birth Health & Heredity

基　　金：2022年佛山市自筹经费类科技创新项目(医学类科技攻关)(2220001004756)。

摘　　要：目的 对佛山地区HKαα地中海贫血病例进行基因诊断,分析HKαα病例基因型及临床表型,为遗传咨询和产前诊断提供指导依据。方法 分析2020—2023年在佛山市南海区妇幼保健院进行地贫基因诊断的患者16711例,选取琼脂糖凝胶电泳扩增产物显示3.7弱条带及出现3条带(3.7弱条带、正常α2条带和SEA条带)的标本,进行血常规及HKαα基因诊断,分析病例的基因型及临床表型。结果 共检测到29例HKαα病例,其中HKαα/αα,β^(14-15)/β^(N)有1例;HKαα/αα,β^(-28)/β^(N)有1例;HKαα/αα,β^(βE)/β^(N)有1例;HKαα/αα,β^(41-42)/β^(N)有4例;HKαα/αα,β^(N)/β^(N)有13例;HKαα/--^(SEA),β^(N)/β^(N)有7例;HKαα/α^(WS)α,β^(41-42)/β^(N)有1例;HKαα/α^(CS)α,β^(N)/β^(N)有1例。结论 HKαα地中海贫血的基因诊断可以减少病例的漏诊或误诊,更加精准地为遗传咨询提供指导。Objective To genetic diagnosis of HKαα thalassemia cases in Foshan,and analyse the genotype and clinical phenotype of HKαα cases,to provide guidance for genetic counseling and prenatal diagnosis.Methods 16711 patients were received thalassemia gene diagnosis in Nanhai District Maternal and Child Health Hospital of Foshan City from 2020 to 2023.Among the patients,the samples with showing 3.7 weak band and with three bands(-α~(3.7) weak band,normal α2 alleles and--~(SEA )band) appearing in agarose gel electrophoresis were selected,then the samples of blood routine and HKαα gene diagnosis were performed.Last,the genotype and clinical phenotype of the cases were analyzed.Results A total of 29 HKαα cases were detected,including 1 case of HKαα/αα,β~(14-15)/β~N;1 case of HKαα/αα,β~(-28)/β~N;1 case of HKαα/αα,β~(βE)/β~N;4 cases of HKαα/αα,β~(41-42)/β~N;13 cases of HKαα/αα,β~N/β~N;7 cases of HKαα/--~(SEA),β~N/β~N;1 case of HKαα/α~(WS)α,β~(41-42)/β~N;1 case of HKαα/α~(CS)α,β~N/β~N.Conclusion The genetic diagnosis of HKαα thalassemia can reduce the missed diagnosis or misdiagnosis of cases,and provide more accurate guidance for genetic counseling.

关 键 词：地中海贫血 基因诊断 HKαα 

分 类 号：R556.61[医药卫生—血液循环系统疾病] R440[医药卫生—内科学]