佛山地区55例新生儿血红蛋白E合并地中海贫血病例的基因型和血液型特征分析  

Genotype and blood type characteristics of 55 neonatal hemoglobin E combined with thalassemia cases in Foshan area

作　　者：林粤 周万军 余丰[2] 张澎怡 刘海平[2] 余楠 LIN Yue;ZHOU Wanjun;YU Feng;ZHANG Pengyi;LIU Haiping;YU Nan(Department of Laboratory Medicine,School of Laboratory Medicine and Biotechnology,Southern Medical University,Guangzhou,Guangdong,China,510515;Neonatal Disease Screening Center,Foshan Maternal and Child Health Hospital,Foshan,Guangdong,China,528200;Department of Medical Genetics,School of Basic Medical Sciences,Southern Medical University,Guangzhou,Guangdong,China,510515)

机构地区：[1]南方医科大学检验与生物技术学院医学检验系,广东广州510515 [2]佛山市妇幼保健院新生儿疾病筛查中心,广东佛山528200 [3]南方医科大学基础医学院医学遗传学教研室,广东广州510515

出　　处：《分子诊断与治疗杂志》2023年第7期1138-1141,1146,共5页Journal of Molecular Diagnostics and Therapy

基　　金：广东省联合基金⁃面上项目(2021A51515220091)。

摘　　要：目的分析佛山地区新生儿血红蛋白E(Hb E)合并地中海贫血基因型和血液学表型的关系。方法选取2019年1月至2020年12月佛山市妇幼保健院新生儿疾病筛查中心126939例新生儿血斑进行毛细管电泳初筛,Hb E阳性样本采用反向斑点杂交法检测其珠蛋白基因,并进行血液学分析,采用红细胞数(RBC)、血红蛋白(HGB)、红细胞平均体积(MCV)、平均血红蛋白浓度(MCHC)、Hb E、血红蛋白Bart(Hb Bart's)含量比较血液学表型。结果126939例新生儿血斑卡经毛细管电泳检出Hb E条带样本208例,召回55例(召回率26.44%),经珠蛋白基因检测确诊为异常Hb E病,佛山地区新生儿异常Hb E病检出率为0.16%。55例中Hb E杂合子44例,Hb E合并⁃⁃SEA/αα3例,Hb E合并⁃α3.7/αα3例,Hb E合并αCSα/αα2例,Hb E合并α4.2α/αα、⁃⁃SEA/αα合并β654/βE、⁃⁃SEA/⁃α3.7合并βN/βE各1例。55例异常Hb E的新生儿均呈小细胞低色素性贫血,单纯Hb E杂合子为中度贫血,HGB(107.9±12.8)g/L,MCV(80.4±9.9)fL;1例Hb E合并⁃⁃SEA/⁃α3.7,HGB 99 g/L,MCV 62.5 fL;1例Hb E合并α⁃、β⁃地贫(⁃⁃SEA/ααβ654/βE),RBC 3.9×1012/L,HGB 89 g/L,MCV为72.8 fL。结论异常Hb E可合并不同地中海贫血基因型,临床表型具异质性,与贫血程度相关,临床应重视Hb E合并地中海贫血的筛查并尽早予以干预治疗。Objective To investigate the distribution of thalassemia/Hb E disease and the relationship between thalassemia/Hb E genotype and hematologic changes in newborn screening program in Foshan,Guangdong Province,China.Methods From January 2019 to December 2020,126939 neonatal blood spots from the Neonatal Disease Screening Center of Foshan Maternal and Child Health Hospital were selected for primary screening by capillary electrophoresis.The globin gene of Hb E positive samples was detected by reverse spot hybridization,hematological phenotypes were compared using number of red blood cells(RBC),hemoglobin(HGB),mean volume of red blood cells(MCV),mean hemoglobin concentration(MCHC),Hb E,hemoglobin Bart(Hb Bart’s).Results Totally,208 from 126939 newborns were detected Hb E by capillary electrophoresis neonatal plaque samples,55(26.44%)of 208 were recalled and confirmed Hb E abnormal by globin gene testing.Abnormal Hb E disease was confirmed by globin gene testing,and the detection rate of abnormal Hb E disease in Foshan was 0.16%.Among the 55 cases,Hb E was heterozygous(44 cases),Hb E combined with⁃SEA/αα3 cases,Hb E combined with⁃α3.7/αα3 cases,Hb E combined withαCSα/αα2 cases,Hb E combined withα4.2α/αα、⁃⁃SEA/ααcombined withβ654/βE、⁃⁃SEA/⁃α3.7 combined withβN/βE 1 case each.All 55 neonates with abnormal Hb E disease had microcytic hypochromic anemia,simple Hb E heterozygous was moderate anemia,HGB(107.9±12.8)g/L,MCV(80.4±9.9)fL;1 case Hb E complex⁃⁃SEA/⁃α3.7,HGB 99 g/L,MCV 62.5fL;1 case Hb E compositeα⁃,β⁃thalassaemia(⁃⁃SEA/ααβ654/βE),RBC 3.9×1012/L,HGB 89 g/L,MCV 72.8 fL.Conclusion Abnormal Hb E can compound different thalassemia genotypes,and the clinical phenotype is heterogeneous,which is related to the degree of anemia,and clinical attention should be paid to the screening of Hb E combined with thalassemia and early intervention and treatment.

关 键 词：新生儿筛查 血红蛋白E 地中海贫血 基因型 

分 类 号：R722.1[医药卫生—儿科]