广西医科大学学报2025，Vol.42Issue(3)：415-419,5.DOI:10.16190/j.cnki.45-1211/r.2025.03.012
α2-珠蛋白基因起始密码子ATG＞GTG复合东南亚缺失突变导致Hb H病的研究
Study on Hb H disease caused by the α2-globin gene initiation codon ATG＞GTG mutation combined with Southeast Asian deletional α-thalassemia
摘要
Abstract
Objective:To explore the hemoglobin H(Hb H)diseases diseases caused by a rare α2-globin gene mutation combined with the Southeast Asian deletion of α-thalassemia gene mutation.Methods:For the sus-pected cases of Hb H disease screened in the First Affiliated Hospital of Guangxi Medical University from Janu-ary 2024 to December 2024,the fluorescent PCR melting curve analysis(FCMA)and gap-polymerase chain reac-tion(Gap-PCR)were used to detect the common non-deletional and deletional types of α-thalassemia gene muta-tions,and the DNA sequencing was utilized for rare mutation identification.Results:Among 239 Hb H disease cases investigated,two cases with rare gene mutations were identified,and the genotype of these two cases was--SEA/αATG＞GTG α.The familial cases originated from Nanning,Guangxi,and comprised a 33-year-old mother and her 6-year-old daughter.They had no history of jaundice,hepatosplenomegaly,or blood transfusion.The blood rou-tine analysis showed that the red blood cell count(RBC)was 4.86-5.30×10¹²/L,Hb 91.0-92.0 g/L,the mean cor-puscular volume(MCV)was 60.64-72.40 fL,and the mean corpuscular hemoglobin(MCH)was 17.24-18.90 pg.Hemoglobin analysis revealed that the percentage of Hb H was 20.5%-21.4%,and that of Hb Bart's was 9.8%-10.0%.Conclusion:The Hb H disease caused by α2-globin gene initiation codon ATG＞GTG mutation com-bined with the Southeast Asian deletional α-thalassemia was identified in the Guangxi region for the first time.Clinical presentation included mild anemia,and hemoglobin analysis showed the co-existence of Hb H and Hb Bart's.This gene mutation is rare and is prone to be overlooked in routine thalassemia gene testing,requiring gene sequencing for confirmation.关键词
α-地中海贫血/血红蛋白H病/α2-珠蛋白基因/起始密码子/ATG＞GTG突变Key words
α-thalassemia/Hb H disease/α2-globin gene/initiation codon/ATG＞GTG mutation分类
临床医学引用本文复制引用
柳晓碧,肖璇,朱恒莹,陈萍..α2-珠蛋白基因起始密码子ATG＞GTG复合东南亚缺失突变导致Hb H病的研究[J].广西医科大学学报,2025,42(3):415-419,5.基金项目
国家自然科学基金资助项目(No.81960574) （No.81960574）
广西科技重大专项资助项目(No.桂科AA24206002) （No.桂科AA24206002）
广西科技基地和人才专项项目(No.桂科AD23026025) （No.桂科AD23026025）
