合并双重罕见地中海贫血基因分析  

Gene Analysis of Combined Dual Rare Tha lassemia

作　　者：李成德[1] 冼光宇 黄晓佳[1] 陈珊[1] 梁丽霞[1] 林志芳[1] LI Cheng-De;XIAN Guang-Yu;HUANG Xiao-Jia;CHEN Shan;LIANG Li-Xia;LIN Zhi-Fang(Department of Clinical Laboratory Examination,The First People’s Hospital of Zhaoqing,Zhaoqing 526020,Guangdong Province,China)

机构地区：[1]肇庆市第一人民医院检验科,广东肇庆526020

出　　处：《中国实验血液学杂志》2024年第5期1479-1484,共6页Journal of Experimental Hematology

摘　　要：目的:回顾性分析2例合并双重罕见型地中海贫血基因型病例的检测及诊断过程,探究罕见地中海贫血的漏诊误诊原因提高罕见地中海贫血诊断水平。方法:结合受检者家族史、血液学表型及血红蛋白电泳分析结果,采用PCR+导流杂交法检测受检者α和β-地中海贫血常见基因型,DNA测序技术对受检者标本进行罕见α和β蛋白基因测序。结果:两例受检者均为合并双重罕见地中海贫血基因型,该两例罕见地中海贫血基因组合均为首次报道,一例为αα^(*53_55 del TCC)/αα杂合合并β^(IVSⅡ-2(-T))/β^(N)杂合的αβ复合地中海贫血,另一例为αα^(IVS-Ⅱ-55(T→G)inα1)/αα^(4.2-Q)双重杂合的α-地中海贫血,其中αα^(*53_55 del TCC)/αα基因型亦为首次报道。结论:本次报道的中国人群中罕见地中海贫血基因类型αα^(*53_55 del TCC)/αα及两例罕见地中海贫血基因组合案例,丰富了中国人群地中海贫血基因突变谱,为地中海贫血诊断和优生优育咨询提供更丰富的分子信息。Objective:To retrospectively analyze the detection and diagnosis process of two cases with double rare thalassemia genotypes,explore the causes of missed diagnosis and misdiagnosis of rare thalassemia,and improve the diagnosis level of rare thalassemia.Methods:Base on the family history,hematological phenotype and hemoglobin electrophoretic analysis results,the common genotypes ofαandβ-thalassemia were detected by PCR+diversion hybridization.DNA sequencing technology was used for rareαandβprotein genes sequencing.Results:Both subjects were combined with double rare thalassemia genotypes,and both rare thalassemia gene combinations were reported for the first time.One of them wasαβcomplex thalassemia withαα^(*53_55 del TCC)/ααheterozygous mergerβ^(IVSⅡ-2(-T))/^(N)heterozygous,the other was aaαα^(IVS-Ⅱ-55(T→G)inα1)/αα^(4.2-Q)double azygous heterozygousα-thalassemia,among whichαα^(*53_55 del TCC)/ααgenotype was also reported for the first time.Concdusion:The reported rare gene type aaxαα^(*53_55 del TCC)/ααand two cases of rare gene combinations enriches the spectrum of gene mutations in the Chinese population,and provides richer molecular information for thalassemia diagnosis and eugenics counseling.

关 键 词：αβ复合地中海贫血 基因变异 基因组合 

分 类 号：R556.61[医药卫生—血液循环系统疾病]