国际生殖健康/计划生育杂志2024，Vol.43Issue(4)：302-304,3.DOI:10.12280/gjszjk.20240036
二例罕见α地中海贫血的遗传学分析
Genetic Analysis of Two Cases of Rare α Thalassemia
摘要
Abstract
Two cases of rare α thalassemia gene mutation were reported.The results of blood routine showed the decreased mean corpuscular volume(MCV)and mean corpuscular hemoglobin(MCH),and the normal hemoglobin(Hb).Hemoglobin electrophoresis showed that the first patient had normal HbA2 and elevated HbF,and the second patient had normal HbA2 and HbF.Common mutations of α and β thalassemia gene were not detected in both patients.Because the blood phenotype and genotype did not match,the α thalassemia carriers were suspected.Three rare α thalassemia types,including--THAI,-α27.6 and-α21.9,were further detected by Gap-PCR.However,the results did not show abnormality.Sanger sequencing method was then used to directly sequence the DNA of the study subjects.It was found that the two patients carried rare mutations of α globin gene,namely CD26(GCG＞GGG)heterozygous mutation and CD104(TGC＞TAC)heterozygous mutation,respectively.In this study,two rare α thalassemia gene mutations were reported,which enriched the gene mutation spectrum of the Chinese population,with a guiding significance for the screening diagnosis and genetic counseling of the disease.关键词
α地中海贫血/基因/突变/基因检测/病例报告Key words
Alpha-thalassemia/Genes/Mutation/Genetic testing/Case reports引用本文复制引用
庄倩梅,刘春强,王耿,颜梅珍,江矞颖..二例罕见α地中海贫血的遗传学分析[J].国际生殖健康/计划生育杂志,2024,43(4):302-304,3.基金项目
泉州市医疗卫生领域指导性科技计划项目(2022N037S) （2022N037S）
