【摘要】 目的:分析广西地区血红蛋白H病(Hb H病)的基因突变类型,并对先证者进行家系调查。方法:对2016年10月至2017年11月在广西医科大学第一附属医院经血常规、血红蛋白(Hb)分析确诊为Hb H病的360例患者,利用荧光PCR熔解曲线分析法及DNA测序方法进行α地中海贫血基因突变分析。结果:在360例Hb H病患者中发现1例罕见的非缺失型Hb H病。病例为女性,广西北海人,1岁,无黄疸、肝脾肿大等,未输过血。血常规结果显示:RBC 3.75×1012/L,Hb 77.3g/L,MCV 69.05fL,MCH 20.62pg,MCHC 296.9g/L,HCT 0.26。Hb分析Hb H+Hb Bart’s 20.1%,基因分析结果显示,α2珠蛋白基因Codon 31(AGG>AAG)突变复合东南亚缺失型α地中海贫血-1(--SEA/αCD31α)。患者的家系分析显示,其父亲的血常规及血红蛋白分析正常,基因分析为α2蛋白基因Codon 31突变杂合子。母亲为东南亚缺失型α地中海贫血-1杂合子。结论:首次在广西地区检出α2珠蛋白基因Codon 31AGG>AAG基因突变。Codon 31AGG>AAG基因突变导致α地中海贫血,当复合东南亚缺失型α地中海贫血-1时有中度贫血。首次发现其杂合子无临床症状,血液学检测正常,临床上较容易误诊和漏诊。更多还原

【Abstract】 Objective:To analyze the genotypes of hemoglobin(Hb)H disease in Guangxi,and to investigate pedigree state.Methods:360 cases with Hb H disease in our hospital from October 2016 to November 2017 were involved in this study.The genotypes were analyzed by fluorescence PCR analysis and DNA sequencing.Results:Of 360 cases,one case was diagnosed with non-deletional Hb H disease.The case was 1 year old female,a native of Beihai in Guangxi province,who had no jaundice,hepatosplenomegaly and no blood transfusion history.The hematological data revealed RBC 3.75×1012/L,Hb 77.3 g/L,MCV69.05 fL,MCH 20.62 pg,MCHC 296.9 g/L,HCT 0.26.Hb analysis showed 20.1% of Hb H and Hb Bart’s.PCR and DNA sequencing confirmed genotype of a mutation at codon 31(AGG>AAG)ofα2-globin gene and SEAα-thalassemia-1.Family survey suggested that her blood routine test and Hb analysis were normal,and genotype was heterozygote for Codon 31 mutation(AGG>AAG)onα2-globin gene.While her mother was heterozygote of SEAα-thalassemia-1.Conclusion:This is the first report about the Codon 31 mutation(AGG>AAG)at 2-globin gene among the Hb H patients in Guangxi province.This mutation may causeα-thalassemia.When co-inherited with SEAα-thalassemia,the patient may have intermediate anemia.But heterozygote for this mutation may have normal hematological data,which is easy to be misdiagnosed without genotyping.更多还原