Clinical implications of 2024 edition of WHO classification for G6PD genetic variation.
10.3760/cma.j.cn511374-20250421-00239
- Author:
Weiying JIANG
1
Author Information
1. Department of Medical Genetics and Bioinformatics, Sun Yat-sen School of Medicine, Sun Yat-sen University, Guangzhou, Guangdong 510080, China. jiangwy@mail.sysu.edu.cn.
- Publication Type:Journal Article
- MeSH:
Humans;
Glucosephosphate Dehydrogenase Deficiency/diagnosis*;
Glucosephosphate Dehydrogenase/genetics*;
Genetic Variation;
World Health Organization;
China
- From:
Chinese Journal of Medical Genetics
2025;42(5):513-517
- CountryChina
- Language:Chinese
-
Abstract:
The 1985 version of WHO G6PD variation classification is no longer suitable for the development of modern medicine, and it has been revised by the WHO G6PD Technical Advisory Group. According to the genetic variation classification of G6PD by WHO in 2024, G6PD deficiency is divided into four categories: Class A: enzyme activity < 20% with chronic hemolytic anemia; Class B: enzyme activity < 45% in association with acute hemolysis caused by inducement; Class C: enzyme activity > 60%, no hemolysis; Class U: for those with incomplete clinical phenotypic information, and will be classified again with new clinical evidence obtained. The clinical implications of the new classification include: (1) To guide the prevention and treatment of G6PD deficiency; (2) To better understand the pathological and non-pathological status of G6PD deficiency, which lays a foundation for re-determining the birth defect rate in China; (3) To guide the safe use of anti-malarial drugs and related oxidizing drugs in G6PD deficient patients; (4) To promote the hierarchical health management of G6PD deficient individuals throughout their life cycle; (5) To guide the pathogenicity rating of G6PD gene variation; (6) To unify the diagnostic criteria for global G6PD deficiency, promote the homogenization, comparability and data sharing of global relevant data, and lay the foundation for the application of artificial intelligence.
