桂西地区遗传性血红蛋白H病基因变异类型及其血液学特征的研究  

Study of the genotypic and hematological feature of hemoglobin H disease in West Guangxi area

作　　者：农雪娟 许桂丹[1] 李佳 梁菊华[1] 钟世茂 刘纯宏 王春芳[1] Nong Xuejuan;Xu Guidan;Li Jia;Liang Juhua;Zhong Shimao;Liu Chunhong;Wang Chunfang(Affiliated Hospital of Youjiang Minzu Medical College,Baise,Guangxi 533000,China;Youjiang Minzu Medical College,Baise,Guangxi 533000,China)

机构地区：[1]右江民族医学院附属医院,广西百色533000 [2]右江民族医学院,广西百色533000

出　　处：《中华医学遗传学杂志》2020年第12期1326-1330,共5页Chinese Journal of Medical Genetics

基　　金：广西高校中青年教师基础能力提升项目(2018KY0452);右江民族医学院附属医院2019年度第一批高层次人才科研项目(R20196319)。

摘　　要：目的分析桂西地区血红蛋白H病(hemoglobin H,HbH)的阳性检出率、基因变异类型及其血液学特征。方法选取2013年1月至2018年12月期间本院确诊为HbH病的1246例患者为研究对象,应用红细胞参数分析和血红蛋白电泳,跨越断裂点PCR和PCR结合反向点杂交技术检测中国人常见的6种α地中海贫血(简称地贫)和17种β地贫基因型,同时与其他地区HbH病基因分布情况比较。结果HbH病的阳性检出率为5.66%,1246例HbH病患者中检出614例(49.28%)缺失型HbH病,包括-α3.7/--SEA(35.32%)、-α4.2/--SEA(13.72%)和-α3.7/--THAI(0.24%);632例非缺失型HbH病(50.72%),以αCSα/--SEA(44.86%)为主,其次为αWSα/--SEA(4.33%)、αQSα/--SEA(1.45%)和αCSα/--THAI(0.08%)。检出HbH病复合β地贫54例(4.33%)。HbH病患者大部分表现为轻中度贫血,极少部分为重度贫血,其中HbH-CS患者贫血程度最重,HbH-WS最轻。单纯HbH病患者的Hb水平均低于HbH复合β地贫患者。与其他地区人群HbH病的发病率及基因型比较存在差异。结论桂西地区HbH病的阳性检出率高,基因类型以非缺失型为主,其中αCSα/--SEA最多见,大部分为中度贫血,非缺失型HbH病患者比缺失型HbH病患者贫血严重,当HbH病患者合并β地贫时,其贫血程度有所减轻。与其他地区人群比较存在不同程度差异,这种差异可能是导致HbH病在不同地区人群间临床表现和发病率存在较大差异的因素之一。Objective To analyze the incidence,genotype and hematological feature of hemoglobin H(HbH)disease in West Guangxi region.Methods A total of 1246 patients diagnosed with HbH disease from January 2013 to December 2018 in our hospital were enrolled.Red blood cell parameters,hemoglobin electrophoresis,Gap-polymerase china reaction(Gap-PCR)and polymerase chain reaction-reverse dot blot(PCR-RDB)techniques were used to detect the 6 commonα-thalassemia mutations and 17 commonβ-thalassemia mutations.The results were compared with those of other regions.Results The detection rate for HbH disease was 5.66%.Among the 1246 patients,614(49.28%)had deletion-type HbH disease,including-α3.7/--SEA(35.32%),-α4.2/--SEA(13.72%)and-a3.7/--THAI(0.24%),632(50.72%)had non-deleted HbH disease,mainlyαCSα/--SEA(44.86%),followed byαWSα/--SEA(4.33%),αQSα/--SEA(1.45%)andαCSα/--THAI(0.08%).Co-committent HbH disease andβ-thalassemia were detected in 54 cases(4.33%).Most patients with HbH disease showed mild to moderate anemia.Very few had severe anemia.Among these,patients with HbH-CS had the most severe anemia,and HbH-WS were the mildest.Hb levels in patients with HbH disease alone were lower than those with co-committent HbH andβ-thalassemia.Compared with other regions,the incidence and genotype of HbH disease of West Guangxi are different.Conclusion The prevalence of HbH disease is high in West Guangxi region,and the main genotypeis non-deletion.αCSα/--SEA is the most common,and most of them had moderate anemia.Compared with the deletion-type HbH disease,non-deleted HbH patients were more severe.When HbH disease co-committed withβ-thalassemia,the severity of anemia is reduced.The difference between West Guangxi and other regions may account for the variance of clinical manifestations and incidence of HbH disease in this region.

关 键 词：HBH病 基因型 构成比 地中海贫血 

分 类 号：R556.61[医药卫生—血液循环系统疾病]