罕见β-地中海贫血CD5(-CT)21例分析  

Analysis of 21 cases of rareβ-thalassemia CD5(-CT)

作　　者：刘莉莉 葛毅媛 赖柏如 杨立业 LIU Lili;GE Yiyuan;LAI Bairu;YANG Liye(Precision Medicine Lab Center,People’s Hospital of Yangjiang,Yangjiang 529500,China;Guangzhou Hybribio Medical Technology Company,Guangzhou 510700,China)

机构地区：[1]广东省阳江市人民医院精准医学检测中心,阳江529500 [2]广州凯普医药科技有限公司,广州510700

出　　处：《广西医科大学学报》2024年第12期1653-1657,共5页Journal of Guangxi Medical University

基　　金：阳江市高水平重点医疗卫生科研项目(No.2023001)。

摘　　要：目的:分析罕见β-地中海贫血(简称β-地贫)CD5(-CT)(HBB:c.17_18delCT)携带者的基因型和血液学特征。方法:采用基因测序方法检测罕见β-地贫基因型,并对其血液学数据进行回顾性分析。结果:DNA测序检出21例罕见β-地贫基因CD5(-CT)携带者,其中女10例,男11例,36 d~38岁,主要居住在中国西南地区(云南和贵州);14例有血常规结果,平均红细胞体积(MCV)为(66.16±6.57)fL,MCH为(20.30±1.67)pg;11例有血红蛋白(Hb)电泳结果,平均HbA2为(5.30±0.40)%。单纯β-地贫基因CD5(-CT)携带者有19例,另外两例CD5(-CT)携带者分别合并α2珠蛋白基因IVSⅡ-55T>G(HBA2:c.300+55T>G)变异和新发α1珠蛋白基因CD83 CTG>GTG(HBA1:c.250C>G)突变。结论:罕见β-地贫血基因CD5(-CT)的分布具有区域性,且血液学特征符合β0地贫表型。Objective:To analyze the genotypes and hematological characteristics of individuals carrying the rareβ-thalassemia CD5(-CT)(HBB:c.17_18delCT).Methods:Gene sequencing was employed to detect the rareβ-thalassemia genotypes,followed by a retrospective analysis of their hematological data.Results:A total of 21 individuals were identified as carriers of the rareβ-thalassemia gene CD5(-CT)through DNA sequencing.Among them,there were 10 females and 11 males,ranging in age from 36 days to 38 years,primarily residing in the southwestern region of China(Yunnan and Guizhou).Among these 21 cases,14 cases had blood routine results.The average mean corpuscular volume(MCV)was(66.16±6.57)fL and the average mean corpuscular hemoglo‐bin(MCH)was(20.30±1.67)pg.For 11 cases with hemoglobin(Hb)electrophoresis results,the average HbA2 was(5.30±0.40)%.Furthermore,there were 19 simple carriers ofβ-thalassemia gene CD5(-CT),and two other CD5(-CT)carriers were combined withα2 globin gene IVSⅡ-55 T>G(HBA2:c.300+55T>G)variation and a newα1 globin gene CD83 CTG>GTG(HBA1:c.250C>G)variation,respectively.Conclusion:The distribution of rareβ-thalassemia gene CD5(-CT)exhibits regional specificity and hematological characteristics consistent with aβ0-thalassemia phenotype.

关 键 词：罕见突变 Β地中海贫血 CD5(-CT) 基因测序 新发突变 

分 类 号：R556.61[医药卫生—血液循环系统疾病]