深圳市宝安区873例β-地中海贫血携带者基因谱及血常规特征分析  

Genotype spectrum and blood routine features of 873β⁃thalassemia carries in Shenzhen Baoan Women and Children's Hospital

作　　者：罗茗月 陈旭[1,2] 严泽浩 沈楷 麦光兴 熊礼宽 LUO Mingyue;CHEN Xu;YAN Zehao;SHEN Kai;MAI Guangxing;XIONG Likuan(Department of Center Laboratory,Shenzhen Baoan Women's and Children's Hospital,Jinan University,Shenzhen,Guangdong,China,518100;Shenzhen Key Laboratory of Birth Defect Research,Shenzhen Baoan Women's and Children's Hospital,Jinan University,Shenzhen,Guangdong,China,518100)

机构地区：[1]暨南大学附属深圳市宝安区妇幼保健院中心实验室,广东深圳518100 [2]暨南大学附属深圳市宝安区妇幼保健院,深圳市出生缺陷重点实验室,广东深圳518100

出　　处：《分子诊断与治疗杂志》2024年第9期1742-1746,共5页Journal of Molecular Diagnostics and Therapy

基　　金：深圳市科技创新委员会技术攻关面上项目(JSGG20191129104603949)。

摘　　要：目的分析深圳市宝安区妇幼保健院873例β-地中海贫血(简称地贫)携带者基因谱及不同基因型携带者的血常规特征。方法对2017年1月至2020年12月于宝安区妇幼保健院就诊的873例女性进行血常规和地贫基因检测,采用血细胞分析仪检测红细胞计数(RBC)、血红蛋白浓度(Hb)、平均红细胞体积(MCV)和平均红细胞血红蛋白含量(MCH),采用PCR-反向斑点杂交法检测非缺失型α-地贫和β-地贫,采用缺口聚合酶链反应(GAP-PCR)凝胶电泳法检测缺失型α-地贫。结果在755例β-地贫单纯杂合子携带者中检测到13种基因型,包括4种β^(+)-地贫、8种β^(0)-地贫和1种β^(E)-地贫。β^(E)-、β^(+)-和β^(0)-3组地贫携带者Hb、MCV和MCH依次降低,RBC依次增高,比较差异有统计学意义(P<0.05)。在43例α-地贫合并β^(+)-地贫携带者中检测到9种基因型,在75例α-地贫合并β^(0)-地贫携带者中检测到17种基因型。与β^(+)-地贫或β^(0)-地贫单纯杂合子相比,β^(+)-地贫或β^(0)-携带者合并α^(+)-或α^(0)-地贫时,Hb、MCV和MCH明显增高,比较差异有统计学意义(P<0.05),β^(0)-地贫携带者合并α^(0)-地贫时,Hb、MCV和MCH明显高于合并α^(+)-地贫,比较差异有统计学意义(P<0.05)。结论β-地贫携带者呈现明显的分子异质性,临床表现为小细胞低色素性贫血,但贫血程度差异性很大。合并α-地贫可缓解β-地贫携带者的贫血表现,β^(0)-地贫合并α^(0)-地贫比合并α^(+)-地贫表型更轻,在产前筛查中应予以重视,避免漏检。Objective To analyze genotype spectrums of 873β-thalassemia carries and blood rou-tine features of different genotypes carries in Shenzhen Baoan Women and Children's Hospital.Methods Blood routine features and thalassemia genotypes of 873 women were detected at Shenzhen Baoan Women and Children's Hospital from January 2017 to December 2020.Red blood cell(RBC),hemoglobin(Hb),mean corpuscular vo1ume(MCV)and mean corpuscular hemoglobin(MCH)were analyzed by automated blood cell counter.Non-deletional mutations ofα-thalassemia andβ-thalassemia were detected by reverse dot-blot hybrid-ization,and deletional mutations were conducted using gap polymerase chain reaction(Gap-PCR)gel-electro-phoresis.Results Thirteen kinds of genotypes were found in the 755β-thalassemia heterozygosity carriers withoutα-thalassemia,including four kinds ofβ^(+)-thalassemia,eight kinds ofβ^(0)-thalassemia and one kind ofβ^(E)-thalassemia.The value of Hb,MCV and MCH decreased,RBC increased in the order ofβ^(E)-,β^(+)-andβ^(0)-thalassemia group,and the differences were statistically significant(P<0.05).Nine genotypes were determined from the 43 carriers with concurrentα-andβ^(+)-thalassemia and seventeen genotypes were identified from the 75 carriers with concurrentα-andβ^(0)-thalassemia.Significant higher Hb,MCV and MCH values were noted inβ^(+)-thalassemia orβ^(0)-thalassemia co-inherited withα^(+)-thalassemia orα^(0)-thalassemia compared to the onlyβ^(+)-thalas-semia orβ^(0)-thalassemia heterozygosity with normal alpha globin gene,and the differences were statistically significant(P<0.05).Moreover,the value of Hb,MCV and MCH increased more inβ^(0)-thalassemia co-inheri-tance ofα^(0)-thalassemia than in co-inheritance ofα^(+)-thalassemia,and the differences were statistically signifi-cant(P<0.05).Conclusion Theβ-thalassemia carries presented diverse molecular heterogeneity and hypo-chromic microcytosis at various degrees.Co-inherited withα-thalassemia could alleviate anemic phenotype inβ-thalassemia,andβ^(0)-thalass

关 键 词：Β-地贫 异质性 合并α-地贫 血常规特征 

分 类 号：R556.61[医药卫生—血液循环系统疾病] R446.111[医药卫生—内科学]