广西医科大学学报2018，Vol.35Issue(6)：809-812,4.DOI:10.16190/j.cnki.45-1211/r.2018.06.016
α2珠蛋白基因Codon31(AGG＞AAG)突变导致α地中海贫血的研究
α2-globin gene Codon 31(AGG＞AAG) mutations in α-thalassemia patients
摘要
Abstract
Objective:To analyze the genotypes of hemoglobin(Hb) H disease in Guangxi,and to investigate pedigree state.Methods:360 cases with Hb H disease in our hospital from October 2016 to November 2017 were involved in this study.The genotypes were analyzed by fluorescence PCR analysis and DNA sequencing.Results:Of 360 cases,one case was diagnosed with non-deletional Hb H disease.The case was 1 year old female,a native of Beihai in Guangxi province,who had no jaundice,hepatosplenomegaly and no blood transfusion history.The hematological data revealed RBC 3.75 × 1012/L,Hb 77.3 g/L,MCV 69.05 fL,MCH 20.62 pg,MCHC 296.9 g/L,HCT 0.26.Hb analysis showed 20.1％ of Hb H and Hb Bart's.PCR and DNA sequencing confirmed genotype of a mutation at codon 31(AGG＞AAG) of α2-globin gene and SEA α-thalassemia-1.Family survey suggested that her blood routine test and Hb analysis were normal,and genotype was heterozygote for Codon 31 mutation(AGG＞AAG) on α2-globin gene.While her mother was heterozygote of SEA α-thalassemia-1.Conclusion:This is the first report about the Codon 31 mutation(AGG＞AAG) at 2-globin gene among the Hb H patients in Guangxi province.This mutation may cause α-thalassemia.When co-inherited with SEA α-thalassemia,the patient may have intermediate anemia.But heterozygote for this mutation may have normal hematological data,which is easy to be misdiagnosed without genotyping.关键词
α地中海贫血/Hb H病/Codon 31(AGG＞ AAG)突变/基因型Key words
α-thalassemia/Hb H disease/Codon 31 mutation/genotype分类
医药卫生引用本文复制引用
黄紫娟,张学,陈萍,陈文强,李树全,丘玉铃,肖璇,杨德寨..α2珠蛋白基因Codon31(AGG＞AAG)突变导致α地中海贫血的研究[J].广西医科大学学报,2018,35(6):809-812,4.基金项目
国家科技支持计划课题(No.2012BAI09B00) （No.2012BAI09B00）
中国医学科学院地中海贫血防治研究重点实验室(No.2017PT32012) （No.2017PT32012）
广西科学研究与技术开发计划项目(No.桂科合0992032-11) （No.桂科合0992032-11）
广西重点实验室建设项目(No.17-259-25) （No.17-259-25）
广西地中海贫血防治临床医学研究中心建设(No.桂科AD17129061) （No.桂科AD17129061）
