Research progress of female heterozygous G6PD deficiency and its clinical detection status
10.3969/j.issn.1673-4130.2025.05.020
- VernacularTitle:G6PD缺乏症女性杂合子及其临床检测现状的研究进展
- Author:
Meijia CHEN
1
;
Juan TANG
;
Haihua DENG
;
Biao YIN
Author Information
1. 广西壮族自治区生殖医院优生遗传科,广西 南宁 530021
- Keywords:
glucose-6-phosphate dehydrogenase deficiency;
heterozygous females;
glucose-6-phosphate dehydrogenase activity;
reference interval
- From:
International Journal of Laboratory Medicine
2025;46(5):610-615
- CountryChina
- Language:Chinese
-
Abstract:
Glucose-6-phosphate dehydrogenase(G6PD)deficiency is one of the most common monogenic genetic diseases in the world.China is the high incidence area of this disease.G6PD heterozygote is the main form of G6PD deficiency in females,which belongs to X-linked incomplete dominant inheritance.Therefore,the enzyme activities of female heterozygotes vary widely,showing normal to mild to moderate enzyme activi-ties.There is no unified calibrators for G6PD enzymatic detection reagents commonly used in clinical practice,and the results of the same sample detected by different kits from different manufacturers are different,so there is a phenomenon of missed detection in clinical screening of female G6PD heterozygotes.Although G6PD gene detection can effectively improve the detection rate of female heterozygotes,its clinical application is lim-ited due to cost and other reasons.Therefore,the development of detection methods that can improve the de-tection rate of female heterozygotes and are suitable for large-scale screening and clinical application will be an urgent need to be solved in clinical practice.This article reviews the epidemiology of G6PD deficiency,genetic characteristics of female G6PD gene,clinical manifestations and detection methods of G6PD female heterozy-gotes.
