Gene Mutation Types and Characteristics of 522 Children with Glucose-6-Phosphate Dehydrogenase Deficiency
10.11969/j.issn.1673-548X.2025.07.009
- VernacularTitle:522例葡萄糖-6-磷酸脱氢酶缺乏症患儿基因突变频率分析
- Author:
Mingxiang ZHOU
1
;
Zhenglian YAO
;
Huajuan ZHAO
Author Information
1. 550004 贵阳,贵州医科大学儿科学院
- Publication Type:Journal Article
- Keywords:
Glucose-6-phosphate dehydrogenase deficiency;
Gene;
Mutation;
Frequency
- From:
Journal of Medical Research
2025;54(7):42-46
- CountryChina
- Language:Chinese
-
Abstract:
Objective To study the frequency of gene mutations in 522 children with glucose-6-phosphate dehydrogenase(G6PD)deficiency who were admitted to the Affiliated Hospital of Guizhou Medical University to explore the genetic mutation characteris-tics of them in children in Guizhou region.Methods To select 522 pediatric patients who underwent G6PD genetic testing at the Affilia-ted Hospital of Guizhou Medical University from January 1,2017 to December 30,2023,and the frequency and clinical characteristics of these patients were analyzed.Results Among the 522 patients with gene mutations,male cases accounted for 91.18％,female cases ac-counted for 8.82％,and the average age was(1.66±1.89)years;a total of 18 types of mutations were detected in this study,including 10 G6PD gene mutations and 8 compound gene mutations.The four main genotypes were c.1388 G＞A,c.1024 C＞T,c.95 A＞G and c.1376 G＞T,accounting for 29.31％,23.75％,17.63％and 17.06％,respectively;Among the cases,male patients accounted for 91.18％,and all cases of compound mutations were female;The majority were class B variants,and no class A were detected.Conclu-sion Eighteen G6PD gene mutations were detected with G6PD deficiency,and c.1388 G＞A,c.1024 C＞T,c.95 A＞G,c.1376 G＞T were the first four types;The majority of patients were male,with a variety of complex mutation types,all of which were found in female patients.Guizhou province is a high-risk area for G6PD deficiency,and G6PD gene testing is beneficial for early diagnosis,prevention of G6PD deficiency and treatment of serious complications such as hemolysis and jaundice caused by G6PD gene deficiency.
