信宜地区育龄人群异常血红蛋白E病基因型分布以及血液学参数分析

目的探究广东信宜地区育龄人群异常血红蛋白E(HbE)病基因型分布情况及血液学参数,为遗传咨询、优生优育提供参考依据。方法回顾性分析2019年1月至2021年1月在本院进行Hb电泳筛查及地中海贫血基因诊断的13 568名育龄对象的血液学指标,统计筛查结果。结果信宜地区共确诊54例异常HbE病患者,育龄人群异常HbE病患病率为0.398%(54/13 568)。其中单纯 HBB:C.79G>A 44 例,HBB:C.79G>A 合并-α~(3.7)/αα 2 例,HBB:C.79G>A 合并—~(SEA)/αα 5 例、HBB:C.79G>A合并--~(SEA)/-α4.2 1例,HBB:C.79G>A合并β~(41-42) 1例,HbE合并中国型胎儿血红蛋白持续增高症Chinese(~Aγδβ)~0thalassaemia] 1例。Hb电泳可有效检测异常HbE病,当异常HbE病基因突变时,表型变化存在较大的差异。结论异常HbE可合并不同地中海贫血基因型,其临床表型具有异质性,只分析其血液学结果用于产前筛查中会导致异常HbE被漏检,育龄人群是否需要进一步的产前诊断需基于其珠蛋白基因型、临床表型及血液学参数的具体分析。

Analysis of genotype distribution and hematological parameters of abnormal hemoglobin E disease in population of childbearing age in Xinyi area

Objective To explore the genotype distribution and hematological parameters of abnormal hemoglobin E(HbE)disease in the population of childbearing age in Xinyi,Guangdong,so as to provide reference for genetic counseling and sound child rearing.Methods The hematological indexes of 13568 persons of childbearing age objects who underwent Hb electrophoresis screening and genetic diagnosis of thalassemia in our hospital from January 2019 to January 2021 were retrospectively analyzed,and the screening results were counted.Results A total of 54 patients with abnormal HbE disease were diagnosed in Xinyi area,the prevalence rate of abnormal HbE was 0.398%(54/13568)in the population of childbearing age.Among them,there were 44 cases of simple HBB:C.79G>A,2 cases of HBB:C.79G>A combined with-α3.7/αα,5 cases of HBB:C.79G>A combined with--SEA/αα,1 case of HBB:C.79G>A combined with--SEA/-α4.2,1 case of HBB:C.79G>A combined withβ41-42,and 1 case of HBB:C.79G>A combined with Chinese type of persistent increase in fetal hemoglobinChinese(Aγδβ)0thalassaemia].Hb electrophoresis could effectively detect abnormal HbE disease.When the abnormal HbE disease gene was mutated,the phenotypic changes had great differences.Conclusion Abnormal HbE can be combined with different thalassemia genotypes,and its clinical phenotype is heterogeneous.Only analyzing the hematological results for prenatal screening will lead to the missed detection of abnormal HbE.Whether population of childbearing age need further prenatal diagnosis should be analyzed based on the specific analysis of globin genotype,clinical phenotype and hematological parameters.