一例罕见的缺失型β地中海贫血及其家系分析.docVIP

一例罕见的缺失型β地中海贫血及其家系分析 朱晓洁 刘露 刘瑞玉 李旭艳 曾宏 曹碧红 王春晖 惠州市中心人民医院检验中心 X 关注成功！ 加关注后您将方便地在 我的关注中得到本文献的被引频次变化的通知！ 新浪微博 腾讯微博 人人网 开心网 豆瓣网 网易微博 摘????要： 目的 对一例国人罕见的缺失型β地中海贫血及其家系进行基因分析, 以期为地中海贫血的预防、临床诊断及遗传咨询提供科学的参考依据。方法 采用血细胞分析仪及全自动快速电泳分析系统进行血液学分析;采用导流杂交法进行常规α和β地中海贫血基因检测;采用多重链接探针扩增技术 (multi-link probe amplification technology, MLPA) 、DNA测序、缺口PCR (Gap-PCR) 及血红蛋白持续增多症缺失型电泳等技术分析其罕见基因型。结果 通过血红蛋白持续增多症缺失型电泳技术检测到先证者为中国人罕见的越南型缺失型β地中海贫血;通过导流杂交法检测到先证者母亲为中国人常见的CD41/42基因突变;通过血红蛋白持续增多症缺失型电泳技术检测到先证者父亲及其胞弟为罕见的越南型缺失型β地中海贫血。先证者及胞弟的罕见越南型缺失型β地中海贫血遗传来源是其父亲。结论越南型缺失型β地中海贫血是一种罕见的β珠蛋白基因缺失, 血常规有小细胞低色素的表现, 血蛋白电泳血红蛋白F (hemoglobin F, HbF) 常常增高明显。当出现血液学表型与基因型不符时, 应注意进一步做罕见基因型的检测以避免漏诊或误诊, 这有助于指导临床诊断、人群筛查和遗传咨询。 关键词： 越南型缺失型β地中海贫血; 罕见基因型; 地中海贫血; 作者简介：朱晓洁 (1982—) , 女, 硕士, 主治检验医师, 研究方向:医学检验分子诊断。E-mail:zhuxiaojie0070@ 收稿日期：2017-06-26 基金：惠州市科技计划项目 (No.2014Y015) A case of rare β-thalassemia with gene deletion and the pedigree analysis ZHU Xiaojie LIU Lu LIU Ruiyu LI Xuyan ZENG Hong CAO Bihong WANG Chunhui Department of Laboratory Center of Hui Zhou Municipal Central Hospital; Abstract： Objective A case of rare β-thalassemia with gene deletion and the pedigree genetic analysis was investigated in order to provide scientific reference for the prevention, clinical diagnosis and genetic counseling of thalassemia.Methods Hematological cytoanalyzer and automatic electrophoretic analysis system were used to analyze the phenotype.Conventional α and β thalassemia genes were detected by flow-through hybridization.Multi-link probe amplification technology (MLPA) , DNA sequencing, gap PCR (Gap-PCR) and continuous electrophoresis of hemoglobin were used to analyze the rare genotypes.Results A rare type of β-thalassemia with Vietnamese deletion was detected in the proband by continuous electrophoresis of hemoglobin.β-thalassemia with CD41/42 gene mutation was detected in probands mother by flow-through hybridization.The rare type of β-thalassemia with Vietnamese deletion were detected in probands father and her young