佛山南海区育龄夫妇异常血红蛋白病基因突变谱和血液学表型分析  

Gene mutation spectrum and hematological phenotype analysis of abnormal hemoglobinopathy in couples of childbearing age in Nanhai District,Foshan

作　　者：黄倩婷[1] 杨发达[1] 吕凤冰[2] 吕伟标 Huang Qianting;Yang Fada;Lyu Fengbing;Lyu Weibiao(Department of Clinical Laboratory,Nanhai Maternity and Child Healthcare Hospital of Foshan,Foshan 528200,China;Department of Obstetrics,Nanhai Maternity and Child Healthcare Hospital of Foshan,Foshan 528200,China;Department of Blood Transfusion,Shunde Hospital,Shunde Hospital of Southern Medical University(The First People's Hospital of Shunde),Foshan 528308,China)

机构地区：[1]佛山市南海区妇幼保健院检验科,佛山528200 [2]佛山市南海区妇幼保健院产科,佛山528200 [3]南方医科大学顺德医院(佛山市顺德区第一人民医院)输血科,佛山528308

出　　处：《中华地方病学杂志》2024年第11期866-873,共8页Chinese Journal of Endemiology

基　　金：佛山市医学类科技攻关项目(2320001007473)

摘　　要：目的分析佛山南海区育龄夫妇异常血红蛋白病的基因突变类型及其临床血液学表型。方法回顾性分析2017年8月至2023年11月在佛山市南海区妇幼保健院孕产检和婚检的24748份检测样本的血红蛋白病基因测序、血常规检测及血红蛋白毛细管电泳结果。结果检出41种异常血红蛋白基因类型,共294例,检出率为1.19%(294/24748)。涉及α珠蛋白结构变异的24种基因类型,共172例;涉及β珠蛋白结构变异的13种基因类型,共118例;涉及α+β珠蛋白结构变异的4种基因类型,共4例。其中以Hb New York(82例)、Hb HekinanⅡ(76例)、Hb Owari(29例)、Hb Q-Thailand(27例)这4种基因类型多见。274例异常血红蛋白病基因携带者,血常规表型阳性的有89例,检出率为32.48%,其中平均红细胞体积(MCV)异常的81例,平均红细胞血红蛋白含量(MCH)异常的71例;血红蛋白毛细管电泳表型阳性的有166例,检出率为60.58%,其中HbA2异常的81例,检出异常血红蛋白条带的133例。不合并α或β地贫的大多异常血红蛋白病基因携带者无临床症状或只有轻微临床症状,少部分血液学表型阳性。结论佛山南海区育龄夫妇异常血红蛋白病发生率较高,变异以α珠蛋白结构变异为主,部分基因类型血红蛋白毛细管电泳阳性,少部分基因类型表现出贫血症状。Objective To analyze the gene mutation types and clinical hematological phenotypes of abnormal hemoglobinopathy in couples of childbearing age in Nanhai District,Foshan.Methods The hemoglobinopathy gene sequencing,blood routine testing,and hemoglobin capillary electrophoresis results of 24748 samples from prenatal and premarital examinations at Nanhai Maternity and Child Healthcare Hospital of Foshan from August 2017 to November 2023 were retrospectively analyzed.Results Totally 41 abnormal hemoglobinopathy genotypes were detected in 294 cases,the detection rate was 1.19%(294/24748).There were 24 genotypes involved inαglobin structural variation,with 172 cases.There were 13 genetypes involved inβglobin structural variation,with 118 cases.There were 4 genotypes involved inα+βglobin structural variation,with 4 cases.Among them,Hb New York(82 cases),Hb HekinanⅡ(76 cases),Hb Owari(29 cases),and Hb Q-Thailand(27 cases)were the most common genetypes.Among 274 cases of abnormal hemoglobinopathy gene carriers,89 cases were positive in blood routine phenotype,the detection rate was 32.48%,including 81 cases with abnormal mean corpuscular volume(MCV)and 71 cases with abnormal mean corpuscular hemoglobin(MCH).There were 166 cases with positive phenotype in hemoglobin capillary electrophoresis,the detection rate was 60.58%,among them 81 cases with abnormal HbA 2 and 133 cases with abnormal hemoglobin band.Most of the abnormal hemoglobinopathy gene carriers without combinedαorβ-thalassemia had no clinical symptoms or only mild clinical symptoms,and a small number had positive hematological phenotypes.Conclusions The incidence of abnormal hemoglobinopathy is relatively high among couples of childbearing age in Nanhai District,Foshan,and the main variation isαglobin structure variation.Some genetypes are positive for hemoglobin capillary electrophoresis,and a few gene types show anemia symptoms.

关 键 词：基因 异常血红蛋白病 血液学表型 

分 类 号：R55[医药卫生—血液循环系统疾病]