惠州地区血红蛋白E病患者的基因型与血液学特征分析  

Analysis of genotype and hematological characteristics of patients with hemoglobin E disease in Huizhou area

作　　者：官凌燕 吴志勇 邱佩绵[3] GUAN Lingyan;WU Zhiyong;QIU Peimian(Medical College of Jiaying University,Meizhou,Guangdong,China,514031;Department of Medical Genetics and Prenatal Diagnosis,Huizhou First Maternal and Child Health Care Hospital,Huizhou,Guangdong,China,516007;Department of Clinical Laboratory,Huizhou Municipal Central Hospital,Huizhou,Guangdong,China,516008)

机构地区：[1]嘉应学院医学院,广东梅州514031 [2]惠州市第一妇幼保健院医学遗传与产前诊断科,广东惠州516007 [3]惠州市中心人民医院检验科,广东惠州516008

出　　处：《分子诊断与治疗杂志》2022年第11期1963-1967,共5页Journal of Molecular Diagnostics and Therapy

摘　　要：目的分析惠州客家地区血红蛋白E(Hb E)病患者的发生率、基因型分布和血液学特征。方法收集2014年4月至2021年10月在惠州市中心人民医院和惠州市第一妇幼保健院进行地贫基因检测的标本共114902例,选择经检测确诊为Hb E的546例患者作为研究对象。使用血细胞分析仪和全自动毛细管电泳仪检测Hb E病患者的血液学指标,采用PCR-流式荧光杂交技术和导流杂交技术检测α-和β-地中海贫血(简称地贫)基因。结果惠州客家地区人群Hb E病的发生率为0.475%,共检出15种基因型,其中以Hb E杂合子分布居多,占84.80%。Hb E杂合子患者呈轻微小细胞低色素性贫血,合并α+-地贫时表型有所缓解,合并α^(0)-地贫时表型不能被缓解。三组Hb E病患者之间的血液学参数比较分析显示各组间的平均红细胞体积(MCV)与Hb E差异均有统计学意义(P<0.05)。其中,各组Hb E含量的原始数据分布最集中,且Hb E含量随着合并α-珠蛋白基因突变个数的增多而减少。合并Hb H病时,均表现为轻度贫血,电泳未检出异常Hb H,Hb A_(2)含量小于3.5%,Hb E含量在10%左右。合并β^(-28)表现为轻至中度贫血,Hb A_(2)含量均大于5%,Hb E含量在50%左右,再合并α-地贫时表型可被缓解。结论惠州客家地区人群Hb E病发生率高,本研究有助于为疾病筛查和产前诊断以及遗传咨询提供临床参考资料。Objective To analyze the incidence,genotype distribution and hematological characteristics of the patients with hemoglobin(Hb)E disease in Huizhou Hakka area.Methods A total of114902 samples were detected for thalassemia in Huizhou Municipal Central Hospital and Huizhou First Maternal and Child Health Care Hospital during the period from April 2014 through October 2021,and 546patients with confirmed Hb E were selected as the study subjects.The hematological parameters of Hb E patients were performed by blood cell counters and automatic capillary electrophoresis,while PCR-flow fluorescence hybridization technique and diversion hybridization technique were used for the detection ofα-andβ-thalassemia(thal).Results The incidence of Hb E was 0.475%in Huizhou Hakka area,and a total of 15genotypes were detected,among which heterozygous Hb E was the most distribution,accounting for 84.80%.The results showed that heterozygous Hb E patients had slight microcytic hypochromic anemia,alleviated the hematological phenotype when combined withα+-thal,whereas they could not be alleviated in combination with α^(0)-thal.Comparison and analysis of hematological parameters in three groups of Hb E patients showed significant differences in MCV and Hb E(P<0.05).Among them,the original data distribution of Hb E value in each group was the most concentrated and the Hb E content of patients decreased with the increase of the number ofα-globin gene variants when Hb E combined withα-thal.When Hb E patients coexisted with Hb H disease,they all showed mild anemia,with no abnormal Hb H was detected on electrophoresis,Hb A_(2)content was less than 3.5%,and Hb E content was about 10%.Patients with compound heterozygotes for Hb E and β^(-28)presented mild to moderate anemia,with Hb A2content greater than 5%and Hb E content about 50%,nevertheless,they could be alleviated with concomitantα-thal.Conclusion The incidence of Hb E is high in Huizhou Hakka area.This study is helpful to provide clinical references for disease screening and prenat

关 键 词：血红蛋白E 地中海贫血 基因型 血液学特征 

分 类 号：R556.7[医药卫生—血液循环系统疾病]