深圳蛇口地区地中海贫血类型及其基因类型分布特征调查分析  

Investigation and Analysis of Distribution Characteristics of Thalassemia Types and Their Gene Types in Shekou Area of Shenzhen

作　　者：钟雨燕 栗俊杰 门英华 Zhong Yuyan;Li Junjie;Men Yinghua(Department of Clinical Laboratory,Shenzhen Qianhai Shekou Free Trade Zone Hospital,Shenzhen 518067,Guangdong Province,China;Central Laboratory,Shenzhen Qianhai Shekou Free Trade Zone Hospital,Shenzhen 518067,Guangdong Province,China;Obstetrics Department,Shenzhen Qianhai Shekou Free Trade Zone Hospital,Shenzhen 518067,Guangdong Province,China)

机构地区：[1]深圳市前海蛇口自贸区医院检验科,广东深圳518067 [2]深圳市前海蛇口自贸区医院中心实验室,广东深圳518067 [3]深圳市前海蛇口自贸区医院产科,广东深圳518067

出　　处：《中国社区医师》2025年第5期81-83,共3页Chinese Community Doctors

基　　金：深圳市南山区技术研发和创意设计项目分项基金教育(卫生)科技项目(编号:NS2021068)。

摘　　要：目的:分析深圳蛇口地区地中海贫血类型及其基因分型分布特征。方法:选取2020年5月—2023年6月深圳市前海蛇口自贸区医院收治的2517例疑诊地中海贫血患者作为研究对象,所有受试者入院后24 h内采集空腹静脉血4 mL,行血常规五分类和血红蛋白(Hb)定量检测,对于地中海贫血筛查阳性患者采用聚合酶链反应和导流杂交技术检测基因分型。结果:2517例疑诊地中海贫血患者地中海贫血基因分型阳性1071例(42.55%),其中α地中海贫血672例(62.75%),β地中海贫血371例(34.64%),α复合β地中海贫血28例(2.61%)。α地中海贫血阳性患者分为α缺失型、α三联体和α点突变型,共检出23种基因型。β地中海贫血阳性患者分为β缺失型、β点突变型,共检出28种基因型。α复合β地中海贫血阳性患者共检出18种基因型。结论:深圳蛇口地区地中海贫血患者以α地中海贫血为主,地中海贫血基因分型检出类型较多,可为地中海贫血的遗传咨询及诊疗提供参考。Objective:To analyze the types and genotype distribution characteristics of thalassemia in the Shekou area of Shenzhen.Methods:From May 2020 to June 2023,a total of 2517 suspected thalassemia patients who were treated in Shenzhen Qianhai Shekou Free Trade Zone Hospital were selected as the study subjects.4 mL of fasting venous blood was collected from all subjects within 24 h after admission.Blood routine five classification and hemoglobin(Hb)quantitative testing were performed.For patients who were positive for thalassemia screening,polymerase chain reaction and flow-through hybridization technology were used to detect genotype.Results:Among the 2517 suspected thalassemia patients,1071 cases(42.55%)were positive for thalassemia genotyping,including 672 cases(62.75%)of α-thalassemia,371 cases(34.64%)of β-thalassemia,and 28 cases(2.61%)of α-thalassemia and β-thalassemia.The α-thalassemia positive patients were divided into α deletion type,α triad type andαpoint mutation type,and a total of 23 genotypes were detected.The β-thalassemia positive patients were divided into β deletion type and β point mutation type,and a total of 28 genotypes were detected.A total of 18 genotypes were detected fromα-thalassemia and β-thalassemia positive patients.Conclusion:The thalassemia patients in the Shekou area of Shenzhen are mainly α-thalassemia,and there are several types of thalassemia genotypes detected in this area,which can provide reference for the genetic counseling,diagnosis and treatment of thalassemia.

关 键 词：地中海贫血 基因分型 流行病学 

分 类 号：R556.71[医药卫生—血液循环系统疾病]