非缺失型遗传性持续性胎儿血红蛋白综合征对血红蛋白E及血红蛋白E复合β-地中海贫血的影响  

Effects of non-deletional hereditary persistence of fetal hemoglobin on hemoglobin E/β-thalassemia

作　　者：李琦[1] 陈萍[1] 肖璇[1] 林伟雄[1] 陈文强[1] Li Qi;Chen Ping;Xiao Xuan;Lin Weixiong;Chen Wenqiang(Department of Endemic Diseases,The First Affiliated Hospital of Guangxi Medical University,Key Laboratory of Thalassemia Medicine,Chinese Academy of Medical Sciences,Nanning 530021,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

出　　处：《广西医科大学学报》2018年第5期587-591,共5页Journal of Guangxi Medical University

基　　金：国家自然科学基金资助项目(No.81260101);中国医学科学院地中海贫血防治研究重点实验室课题资助项目(No.2017PT32012);广西重点实验室建设资助项目(No.17-259-25);广西地中海贫血防治临床医学研究中心建设课题资助项目(No.桂科AD17129061)

摘　　要：目的:探讨非缺失型遗传性持续性胎儿血红蛋白综合征(nd-HPFH)对血红蛋白E(Hb)E及Hb E复合β-地中海贫血(Hb E/β-地中海贫血)临床特征的影响。方法:选取2016年1月至2017年12月于广西医科大学第一附属医院行地中海贫血筛查及基因诊断的患者。对患者进行血常规及Hb分析;应用荧光PCR熔解曲线法进行β-地中海贫血基因型检测;应用DNA测序法进行γ-珠蛋白基因启动子分析。结果:Hb E杂合子复合nd-HPFH的Hb F水平高于单纯Hb E杂合子(P<0.05);两组血常规的Hb、平均红细胞容积(MCV)、平均红细胞血红蛋白量(MCH)、平均红细胞血红蛋白浓度(MCHC)差异均无统计学意义(均P>0.05)。Hb E/β-地中海贫血复合nd-HPFH的Hb F水平高于单纯Hb E/β-地中海贫血(均P<0.05);Hb E/β-地中海贫血复合nd-HPFH血常规的Hb、MCV、MCH、MCHC均高于单纯Hb E/β-地中海贫血(均P<0.05)。结论:nd-HPFH可使Hb E杂合子与Hb E/β-地中海贫血的Hb F水平升高,并改善Hb E/β-地中海贫血的贫血症状。Objective：To explore the effects of non-deletional hereditary persistence of fetal hemoglobin（ndHPFH）on clinical features in hemoglobin（Hb）E and Hb E/β-thalassemia patients.Methods：Patients underwent thalassemia diagnosis in our hospital from January 2016 to December 2017 were involved in this study.Hematological analysis were performed.Genotypes ofβ-thalassemia were detected by PCR.Mutations ofγ-globin promoter were analyzed by DNA sequencing.Results：The fetal Hb（Hb F）level in Hb E heterozygotes combined with nd-HPFH group were higher than that in Hb E heterozygotes without nd-HPFH group（P〈0.05）.No significant differences were noted in Hb,mean corpuscular volume（MCV）,mean corpuscular hemoglobin（MCH）and mean corpuscular hemoglobin concentration（MCHC）levels between the two groups（P〉0.05）.Patients with Hb E/β-thalassemia coinherited nd-HPFH had increased Hb F,Hb,MCV,MCH and MCHC levels compared with those of Hb E/β-thalassemia without nd-HPFH（P〈0.05）.Conclusion：nd-HPFH could result in an increased level of Hb F and attenuate clinical symptoms in Hb E and Hb E/β-thalassemia patients.

关 键 词：nd-HPFH HB E Β-地中海贫血 基因突变 

分 类 号：R556.61[医药卫生—血液循环系统疾病]