广东湛江地区血红蛋白H病基因突变研究  

The research on genotypes of hemoglobin H disease in Zhanjiang area

作　　者：黄雅莉 陈萍[1] 梁成鸿 丘玉铃[1] 包杰 刘飏 吴兆勇 莫笑欢 黄志敏 Huang Yali;Chen Ping;Liang Chenghong;Qiu Yuling;Bao Jie;Liu Yang;Wu Zhaoyong;Mo Xiao-huan;Huang Zhimin(Endemic Diseases Department,The First Affiliated Hospital of Guangxi Medical University,Key Laboratory of Thalassemia Medicine,Chinese Academy of Medical Sciences,Nanning 530021,China;Zhanjiang Maternal and Child Health Care Centre,Zhanjiang 524001,China;The Affiliated Hospital of Guangdong Medical University,Zhanjiang 524001,China;Maternal and Child Health Hospital of Xiashan District,Zhanjiang 524001,China;Zhanjiang People＇ s Second Hospital,Guangdong,Zhanjiang 524001,China)

机构地区：[1]广西医科大学第一附属医院地方病科中国医学科学院地中海贫血防治研究重点实验室,南宁530021 [2]广东医科大学附属医院,湛江524001 [3]广东湛江市妇幼保健院,湛江524001 [4]广东湛江市霞山妇幼保健院,湛江524001 [5]广东湛江市第二人民医院,湛江524001

出　　处：《广西医科大学学报》2018年第6期799-803,共5页Journal of Guangxi Medical University

基　　金：国家科技支撑计划课题(No.2012BAI09BOD);中国医学科学院地中海贫血防治研究重点实验室(No.2017PT32012);广西科学研究与技术开发计划项目(桂科合No.0992032-11);广西重点实验室建设项目(No.17-259-25);广西地中海贫血防治临床医学研究中心建设(桂科No.AD17129061)

摘　　要：目的:对广东省湛江地区血红蛋白H病(Hb H病)进行基因分析,了解其基因突变类型及临床特征。方法:采用血常规、血红蛋白分析、Gap-PCR及荧光PCR熔解曲线法、DNA测序等方法对Hb H病进行基因分析。结果:83例Hb H病患者中检出73例缺失型Hb H病(88.0%),包括--SEA/-α3.7 51例,--SEA/-α4.2 22例。检出10例非缺失型Hb H病(12%),包括--SEA/αCSα7例,--SEA/αQSα1例,--SEA/αPoly Aα2例。非缺失型Hb H病血常规结果显示,红细胞计数(RBC)、血红蛋白(Hb)及平均红细胞血红蛋白浓度(MCHC)的平均水平比缺失型Hb H病低,非缺失型Hb H病的Hb H平均水平比缺失型Hb H病的高,差异均有统计学意义(P<0.05)。结论:湛江地区Hb H病基因类型以缺失型为主,其中--SEA/-α3.7最多见,--SEA/-α4.2次之。非缺失型Hb H病比缺失型Hb H病的贫血严重,非缺失型Hb H病比缺失型Hb H病的Hb H含量高。首次在广东地区发现--SEA/αPoly AαHb H病,临床上有中度贫血。Objective： To analyze the genotypes and clinical features of hemoglobin H（ Hb H） disease in Zhanjiang,Guangdong.Methods： The genotypes were analyzed by blood routine analysis,hemoglobin（ Hb） electrophoresis,gapPCR,fluorescence quantitative PCR and DNA sequencing.The data were processed by SPSS 22.0 statistical software.Results： Among 83 cases with Hb H disease,73 cases were detected as deletional Hb H disease,accounted for 88.0%.Their genotypes included--SEA/-α3.7（ 51 cases） and--SEA/-α4.2（ 22 cases）.While 10 cases were detected as nondeletional Hb H disease,accounted for 12%.The non-deletional genotypes were as follows： 7 cases with--SEA/αCSα,1 case with--SEA/αQSα,2 cases with--SEA/αPoly Aα. The results of blood analysis showed that RBC,Hb and MCHC level in non-deletional Hb H disease were lower than those in deletional Hb H disease（ P〈0.05）.The results of Hb analysis showed that Hb H level in patients with non-deletional Hb H disease was higher than that in deletional Hb H disease patients（ P〈0.05）.Conclusion： There were various genotypes of Hb H disease in Zhanjiang area.The common genotypes were deletional Hb H disease,in which the genotypes of--SEA/-α3.7 were most common.Non-deletional Hb H disease was much more anemia than deletional Hb H. The Hb H level in non-deletional Hb H disease was higher than those in deletional Hb H disease.--SEA/αPoly Aα genotype was first reported in Guangdong province,which had intermediate anemia.

关 键 词：Α地中海贫血 HB H病 基因型 POLY A 

分 类 号：R556[医药卫生—血液循环系统疾病]