广州地区育龄人群地中海贫血基因分型及筛查漏检误诊的原因分析  

A Study on Genotyping and Screening Misses of Thalassemia in the Population of Childbearing Age in Guangzhou

作　　者：林琪茵 孔舒[2] 王鼎[2] 黎青[2] 孙筱放[2] 蔡贞[1] LIN Qi-yin;KONG Shu;WANG Ding;LI Qing;SUN Xiao-fang;CAI Zhen(Department of Clinical Laboratory,Nanfang Hospital,Southern Medical University,Guangzhou,Guangdong,510515,China;Experimental Department of Institute of Obstetrics and Gynecology,Guangdong Provincial Key Laboratory of Major Obstetric Diseases,The Third Affiliated Hospital of Guangzhou Medical University,Guangzhou,Guangdong,510150,China)

机构地区：[1]南方医科大学南方医院检验科,广东广州510515 [2]广州医科大学附属第三医院广东省产科重大疾病研究重点实验室妇产科研究所实验部,广东广州510150

出　　处：《现代生物医学进展》2023年第17期3247-3252,共6页Progress in Modern Biomedicine

基　　金：国家自然科学基金项目(32070582);广州市教育局高校科研项目基金(202032868)。

摘　　要：目的:了解广州地区育龄人群的地中海贫血(简称:地贫)基因携带率及基因型分布特征,分析地贫筛查的漏检和误诊原因,为育龄地贫基因携带者进行人工辅助受孕提供依据。方法:收集2019年1月到2021年12月在我院生殖医学科就诊并同时进行地贫筛查及地贫基因检测的育龄患者31455例,分析其地贫相关实验室检查结果,包括红细胞参数、红细胞渗透脆性、血红蛋白电泳及地贫基因检测,计算地贫基因携带率,并通过比较筛查和基因检测结果找出漏筛和误诊病例。结果:共检出育龄地贫基因携带者4455例,地贫基因携带率为14.16%。其中,α-地中海贫血3365例,常见的基因型有^(--SEA)/αα、-α^(3.7)/αα和-α^(4.2)/αα;β-地中海贫血914例,常见的基因型有β^(CD41-42(-TCCT))/β^(N)、β^(IVS-2-654(C→T))/β^(N)和β^(-28(A→G))/β^(N);α-合并β-地中海贫血176例,最常见的基因型是β^(CD41-42(-TCCT))/β^(N)/^(--SEA)/αα。漏筛病例有731例,多为静止型α-地贫。误诊病例有4784例,其中有2701例误诊病例其红细胞渗透脆性和红细胞参数均正常,仅因HbA2<2.5%且HbA>97.5%被误诊为携带地贫基因。结论:广州地区的育龄人群具有较高的地贫基因携带率,静止型α-地贫容易在筛查中被漏检。Objective:To investigate the genotype and gene frequency of thalassemia in people of childbearing age in Guangzhou and analyze the causes of screening misses.This study can provide genetic guidance to the thalassemia gene carriers of childbearing age.Methods:31455 reproductive patients who underwent screening and genetic diagnosis of thalassemia from January 2019 to December 2021 were enrolled in this study.The results of laboratory tests related to thalassemia were analyzed,including routine blood examination,erythrocyte fragility test,hemoglobin electrophoresis,and genetic diagnosis of thalassemia.Calculated the thalassemia carrying rate and found the screening missed and misdiagnosed cases by comparing the results of screening and genetic testing.Results:A total of 4455 patients were found to have thalassemia gene mutations,including 3365 ofα-thalassemia,914 ofβ-thalassemia and 176 of concurrentα-andβ-thalassemia.The three most common mutations ofα-thalassemia were^(--SEA)/αα,-α^(3.7)/αα,and-α^(4.2)/αα,while the three most common mutations ofβ-thalassemia wereβCD41-42(-TCCT)/βN,βIVS-2-654(C→T)/β^(N) andβ^(-28(A→G))/β^(N).The most common mutation ofαβcomplex thalassemia wasβ^(CD41-42(-TCCT))/β^(N)/^(--SEA)/αα.There were 731 missed cases,most of them were restingα-thalassemia.There were 4784 misdiagnosed cases,2701 of them had normal erythrocyte osmotic brittleness and erythrocyte parameters were being misdiagnosed as carrying the thalassemia gene due to HbA2<2.5%and HbA>97.5%.Conclusions:The population of childbearing age in Guangzhou has a relatively high carrier ratio of thalassemia.Restingα-thalassemia was easy to be missed.

关 键 词：地中海贫血 基因型 筛查 血红蛋白电泳 静止型α-地贫 

分 类 号：R715.5[医药卫生—妇产科学] R556.7[医药卫生—临床医学]