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 of β-thalassemia were detected by PCR.Mutations of γ-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.%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HbE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HbF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HbF水平升高,并改善Hb E/β-地中海贫血的贫血症状.
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