广西医科大学学报2024，Vol.41Issue(4)：585-589,5.DOI:10.16190/j.cnki.45-1211/r.2024.04.015
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
摘要
Abstract
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 mu-tation 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)5.81x1012/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 that Hb A2 was 4.5%and Hb F was 0.4%.The a-thalassemia genetic analysis did not identify common types of muta-tions.Conclusion:The rare β-globin gene Codon 24(GGT＞GGA,HBB:c.75T＞A)mutation causing β-thalasse-mia 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Key words
β-thalassemia/Codon 24(GGT＞GGA)/gene mutation/clinical phenotype分类
医药卫生引用本文复制引用
梁文雪,陈成,李琦,陈萍,张学..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[J].广西医科大学学报,2024,41(4):585-589,5.基金项目
广西科技基地和人才专项项目(No.桂科AD23026025) （No.桂科AD23026025）
国家自然科学基金资助项目(No.81960574) （No.81960574）
