西安地区糖尿病筛查人群异常血红蛋白表型和基因突变分析  

Analysis of Abnormal Hemoglobin Phenotypes and Gene Mutation in Diabetes Screening Population in Xi’an Region

作　　者：许楠[1] 郭智 梁亮[2] 耿燕[1] 李友琼[2] XU Nan;GUO Zhi;LIANG Liang;GENG Yan;LI Youqiong(Department of Laboratory Medicine,the Second Affiliated Hospital of Xi’an Jiaotong University,Xi’an 710004,China;Center for Medical Genetics and Prenatal Diagnosis,the People’s Hospital of Guangxi Zhuang Autonomous Region,Nanning 530016,China)

机构地区：[1]西安交通大学第二附属医院医学检验科,西安710004 [2]广西壮族自治区人民医院医学遗传学与产前诊断中心,南宁530016

出　　处：《现代检验医学杂志》2025年第1期13-16,23,共5页Journal of Modern Laboratory Medicine

摘　　要：目的 了解西安地区糖尿病筛查人群异常血红蛋白的突变谱和表型。方法 选取2022年1~12月西安交通大学第二附属医院就诊的30 356例患者,采用高效液相色谱法检测糖化血红蛋白Hb A1c,当提示有异常峰时,同时进行血细胞检测分析和血红蛋白分析,最后Sanger法进行DNA序列分析。结果 西安地区糖尿病筛查人群的异常血红蛋白检出率为0.092%(28/30 356)。共检出7种异常血红蛋白28例,分别为Hb E(10例)、Hb G-Coushatta(6例)、Hb G-Taibei(6例)、Hb Q-Thailand(2例)、Hb North Manchester(2例)、Hb Ottawa(1例)和Hb Queens(1例)。其中1例是Hb GTaibei并发IVS Ⅱ-659_664 (-GCAATA),为首次世界报道。有7例Hb E血液学表型改变外,其他异常血红蛋白表型是正常的。除了Hb G-Coushatta和Hb Ottawa未见干扰糖化检测外,其他5种异常血红蛋白均影响了糖化检测结果。结论 西安地区糖尿病筛查人群存在一定的异常血红蛋白携带,以Hb E,Hb G-Taibei,Hb G-Coushatta为主。绝大部分异常血红蛋白的血液学表型是正常的,但是它们会干扰Hb A1c检测结果。Objective To investigate the mutational spectrum and phenotype of abnormal hemoglobin in the diabetes screening population in Xi’an Region.Methods A total of 30356 patients from the Second Affiliated Hospital of Xi’an Jiaotong University were collected and measured for HbA1c by high-performance liquid chromatography(HPLC)from January 2022 to December 2022.Both complete blood count and hemoglobin analysis were carried out when HPLC suggested an abnormal peak.Abnormal hemoglobins were identified by Sanger sequencing.Results In this study,the rate of abnormal hemoglobin in the diabetes screening population of Xi’an region was 0.096%(28/30356).A total of 7 types of abnormal hemoglobins were detected:Hb E(n=10),G-Coushatta(n=6),Hb G-Taibei(n=6),Hb Q-Thailand(n=2),Hb North Manchester(n=2),Hb Ottawa(n=1)and Hb Queens(n=1).One case was Hb G-Taipei combined with IVS Ⅱ-659_664(-GCAATA),the first report in the world.The abnormal hemoglobin phenotypes were normal except for seven cases of Hb E.Except for Hb G-Coushatta and Hb Ottawa,which did not interfere with the glycation test,the other five abnormal hemoglobins affected the glycation test results.Conclusion There is a certain prevalence rate of abnormal hemoglobin in the diabetes screaning population of Xi’an,mainly Hb E,Hb G-Taibei and Hb G-Coushatta.Most abnormal hemoglobins present normal phenotypes,but they could interfere with glycation test results.

关 键 词：西安地区 异常血红蛋白 高效液相色谱法 糖化血红蛋白 

分 类 号：R587.1[医药卫生—内分泌] Q503[医药卫生—内科学]