罕见β-珠蛋白基因Codon 24(GGT>GGA)突变导致β-地中海贫血1例及文献分析  

Rare β-globin gene Codon 24(GGT>GGA) mutation causing β-thalassemia:a case report and literature analysis

作　　者：梁文雪 陈成[5] 李琦 陈萍[1,2,3,4] 张学 LIANG Wenxue;CHEN Cheng;LI Qi;CHEN Ping;ZHANG Xue(Department of Pediatrics,the First Affiliated Hospital of Guangxi Medical University,Nanning 530021,China;Guangxi Key Laboratory of Thalassemia Research,Nanning 530021,China;Key Laboratory of Thalassemia Medicine,Chinese Academy of Medical Sciences,Nanning 530021,China;NHC Key Laboratory of Thalassemia Medicine,Nanning530021,China;Collaborative Innovation Centre of Regenerative Medicine and Medical BioResource Development and Application Co-constructed by the Province and Ministry,Guangxi Medical University,Nanning 530021,China)

机构地区：[1]广西医科大学第一附属医院儿科,南宁530021 [2]广西地中海贫血防治重点实验室,南宁530021 [3]中国医学科学院地中海贫血防治重点实验室,南宁530021 [4]国家卫生健康委员会地中海贫血防治重点实验室,南宁530021 [5]广西医科大学再生医学与医用生物资源开发应用省部共建协同创新中心,南宁530021

出　　处：《广西医科大学学报》2024年第4期585-589,共5页Journal of Guangxi Medical University

基　　金：广西科技基地和人才专项项目(No.桂科AD23026025);国家自然科学基金资助项目(No.81960574)。

摘　　要：目的:分析罕见β-珠蛋白基因突变类型、血液学及临床特征。方法:收集疑为β-地中海贫血的病例120例。对病例进行全血细胞分类及计数、血红蛋白(Hb)电泳分析检测。用跨越断裂点PCR方法、荧光PCR熔解曲线方法、DNA测序等分析α-和β-珠蛋白基因突变类型。结果:120例β-地中海贫血病例中,检出1例为罕见β-珠蛋白基因突变,基因分析为Codon 24(GGT>GGA,HBB:c.75T>A)杂合子。该病例为男性,39岁,血常规检测显示:Hb 127.3 g/L,血红细胞(RBC)5.81×10^(12)/L,红细胞平均体积(MCV)70.29 fL,红细胞平均血红蛋白量(MCH)21.94 pg,红细胞平均血红蛋白浓度(MCHC)312.10 g/L。Hb分析显示Hb A_(2)4.5%,Hb F 0.4%。a-地中海贫血基因分析未发现常见的基因突变类型。结论:首次在国内发现罕见β-珠蛋白基因Codon 24(GGT>GGA,HBB:c.75T>A)突变导致β-地中海贫血。该病例在临床上易漏诊,应引起重视。Objective:To study the mutation types,hematological characteristics and clinical manifestations of rare β-globin gene.Methods:A total of 120 suspected cases of β-thalassemia were collected.The whole blood cells were classified and counted,and hemoglobin (Hb) was analyzed by electrophoresis for all the cases.The mutation types of α-and β-globin genes were analyzed by cross break point PCR,fluorescence PCR melting curve analysis and DNA sequencing.Results:A total of 120 cases of β-thalassemia were detected,of which 1 case was a rare mutation of β-globin gene,and the genotype was Codon 24 (GGT>GGA,HBB:c.75T>A) heterozygote The case was a 39-year-old male,and the routine blood test showed the following results:Hb 127.3 g/L,red blood cell (RBC) 5.81x10^(12)/L,mean corpuscular volume (MCV) 70.29 fL,mean corpuscular haemoglobin(MCH) 21.94 pg and mean corpuscular hemoglobin concentration (MCHC) 312.10 g/L.Hb analysis showed tha Hb A_(2)was 4.5%and Hb F was 0.4%.The a-thalassemia genetic analysis did not identify common types of mutations.Conclusion:The rare β-globin gene Codon 24 (GGT>GGA,HBB:c.75T>A) mutation causing β-thalassemia is found in China for the first time.This type of case is clinically prone to misdiagnosis and should be given more attention.

关 键 词：Β-地中海贫血 Codon 24(GGT>GGA) 基因突变 临床表型 

分 类 号：R556.61[医药卫生—血液循环系统疾病]