200例地中海贫血第三代测序检测及结果分析  

Detection and result analysis of 200 cases of thalassemia by third-generation sequencing technology

作　　者：马金花 黄佩 吴柳松 罗南都 何志旭 陈艳 Ma Jinhua;Huang Pei;Wu Liusong;Luo Nandu;He Zhixu;Chen Yan(Department of Pediatrics,Affiliated Hospital of Zunyi Medical University,Zunyi Guizhou 563003,China;Department of Pediatrics,Guizhou Children’s Hospital,Zunyi Guizhou 563003,China;Collaborative Innovation Center for Tissue Injury Repair and Regenerative Medicine of Zunyi Medical University,Zunyi Guizhou 563003,China;Kweichow Moutai Hospital,Renhuai Guizhou 564500,China)

机构地区：[1]遵义医科大学附属医院小儿内科,贵州遵义563003 [2]贵州省儿童医院小儿内科,贵州遵义563003 [3]遵义医科大学组织损伤修复与再生医学省部共建协同创新中心,贵州遵义563003 [4]贵州茅台医院,贵州仁怀564500

出　　处：《遵义医科大学学报》2024年第3期237-245,共9页Journal of Zunyi Medical University

基　　金：省部共建协同创新中心项目[NO:教科技厅函(2020)39];贵州省科技计划项目[NO:黔科合平台人才-CXTD(2021)010];遵义市科技计划项目[NO:遵市科人平台(2023)6];贵州茅台医院科研与人才培养资金项目(NO:MTyk2022-01)。

摘　　要：目的 应用第三代测序技术(三代测序)检测地中海贫血(地贫),了解地贫基因类型、构成比等,为地贫的诊断提供理论依据。方法 选取200例就诊于我院门诊可疑地贫的患者,行血常规及血红蛋白电泳检查进行地贫初筛,再进一步行三代测序检测并统计分析。结果 200例患者中男性92例,女性108例,年龄(27.07±5.18)岁。血常规及血红蛋白电泳检出地贫初筛阳性120例(60.0%),进一步行三代测序检出地贫基因阴性36例(30.0%),基因阳性84例(70.0%),其中α地贫47例(56.0%),β地贫34例(40.5%),α/β复合地贫3例(3.6%)。地贫初筛阴性80例(40.0%),行三代测序检出地贫基因阳性28例(35.0%)。三代测序共发现18种基因型,包括8种常规地贫基因检测试剂盒无法检出的类型和4个罕见类型。结论 血常规及血红蛋白电泳能筛出高度疑似地贫的人群,但存在较高的漏诊率,三代测序能明确地贫基因型及检出罕见基因突变,提高地贫检出率,且较常规地贫基因试剂盒检出更多基因型。Objective To detect thalassemia by the third generation sequencing technology,to understand the gene types and composition ratio of thalassemia,so as to provide theoretical basis for the diagnosis of thalassemia.Methods Two hundred patients with suspected thalassemia in outpatient department of our hospital were selected.Blood routine and hemoglobin electrophoresis was performed for thalassemia screening,and then third-generation sequencing detection and statistical analysis was further performed.Results Among the 200 patients,there were 92 males and 108 females,aged(27.07±5.18)years.A total of 120 cases(60%)were diagnosed as thalassemia by blood routine and hemoglobin electrophoresis,among them 36 cases(30%)were diagnosed as thalassemia gene negative and 84 cases(70%)were diagnosed as thalassemia gene positive by further third-generation sequencing,including 47 cases ofαthalassemia(56.0%),34 cases ofβthalassemia(40.5%)and 3 cases(3.6%)ofα/βcompound thalassemia.Eighty cases(40.0%)were negative for thalassemia,during initial screening while 28 cases(35.0%)were proven to be positive for thalassemia by the third-generation sequencing.Eighteen genotypes were found in the third-generation sequencing,including eight types that could not be detected by conventional thalassemia gene detection kits and four rare types.Conclusion Blood routine and hemoglobin electrophoresis can screen out people who are highly suspected of thalassemia,but there is a high rate of missed diagnosis.The third-generation sequencing can identify thalassemia genotypes and detect rare gene mutations,improve the detection rate of thalassemia,and detect more genotypes than the conventional thalassemia gene kit.

关 键 词：第三代测序 地中海贫血 诊断 血常规 血红蛋白电泳 地中海贫血基因型 

分 类 号：R556.61[医药卫生—血液循环系统疾病]