郴州地区罕见地中海贫血基因突变及血液学特征的分析  

Analysis of rare mutations associated with Thalassemia and their hematological characteristics in Chenzhou region of Hunan Province

作　　者：李彩云[1] 张健[1] 曹颖丽 张昊晴[1] 黄东群 谭菊芳 侯帅[1] 雷冬竹[1,2] Li Caiyun;Zhang Jian;Cao Yingli;Zhang Haoqing;Huang Dongqun;Tan Jufang;Hou Shuai;Lei Dongzhu(No.1 People′s Hospital of Chenzhou,Chenzhou,Hunan 423000,China;Hengyang Medical College of South China University,Hengyang,Hunan 421001,China)

机构地区：[1]郴州市第一人民医院中心医院,郴州423000 [2]南华大学衡阳医学院,衡阳421001

出　　处：《中华医学遗传学杂志》2024年第6期708-714,共7页Chinese Journal of Medical Genetics

摘　　要：目的:探讨湖南省郴州地区人群地中海贫血罕见突变类型的分布及血液学特点,为地贫的遗传咨询及有效防控提供依据。方法:以2015年1月至2021年12月郴州市第一人民医院收集的37370例样本作为研究对象,对其进行血常规和血红蛋白电泳筛查,采用高通量测序技术进行地贫基因检测,探讨罕见地贫突变的分布及血液学特点。结果:共检出基因突变8355例,其中罕见型突变185例,共涉及27种突变类型。罕见型α-地贫--THAI和CD31(AGG>AAG)具有典型的小细胞低色素特征,而SEA-HPFH、CD14(CTG>-TG)、CD37(TGG>TAG)、-90(C>T)、Codon 15(G>A)、IVS-Ⅰ-128(T>G)、CD 86(GCC>GC-)及ChineseGγ+(Aγδβ)0均具有典型的小细胞低色素及HbA2或HbF升高的β-地贫血液学特征。β-珠蛋白基因的-50(G>A)杂合子大多平均红细胞体积、平均红细胞血红蛋白含量正常或轻微下降,而HbA 2不高。结论:郴州地区地中海贫血变异类型多样。上述结果可为制定地中海贫血的防控方案和开展优生优育提供数据支撑。Objective To explore the distribution and hematological characteristics of rare thalassemia-associated mutations in Chenzhou region of Hunan Province with an aim to provide a basis for genetic counseling and effective prevention.Methods A total of 37370 individuals enrolled from January 2015 to December 2021 were screened by routine blood test and hemoglobin electrophoresis.The genotypes were determined with high-throughput sequencing.Results A total of 8455 thalassemia mutations(including 185 rare ones)were detected,which had involved 27 mutational types.Rare typeα-Thalassemia--THAI and CD31(AGG>AAG)have the typical microcytic hypochromic hematological features,whilst SEA-HPFH,CD14(CTG>-TG),CD37(TGG>TAG),-90(C>T),Codon 15(G>A),IVS-Ⅰ-128(T>G),CD86(GCC>GC-)and Chinese Gγ+(Aγδβ)0 had typical microcytic hypochromic andβ-thalassemia-associated hematological features of elevated HbA2 or HbF.In addition,the-50(G>A)heterozygotes ofβ-thalassemia had normal or slightly decreased MCV and MCH without an increase in HbA2.Conclusion Various forms of thalassemia-associated mutations have been identified in the Chenzhou region of Hunan Province.Above finding has facilitated development of preventive and control strategies for thalassemia as well as birth health programs.

关 键 词：地中海贫血 基因检测 罕见突变 血液学特征 

分 类 号：R556.61[医药卫生—血液循环系统疾病]