ArticleScientific reports2020
Glucose-6-phosphate dehydrogenase deficiency in the Han Chinese population: molecular characterization and genotype-phenotype association throughout an activity distribution.
Article in Scientific reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers, 1 of them a synthesis that pooled it.
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Who cites it
43 citing papers in PubMed, 1 synthesis or guideline pooled it, 64 citations in OpenAlex.
- Population screening for glucose-6-phosphate dehydrogenase deficiency using quantitative point-of-care tests: a systematic review.Frontiers in genetics · 2023Pooled it
- The prediction of phototherapy by early postnatal ETCOc in Chinese newborns.BMC pediatrics · 2025Trial
- End-tidal CO corrected for ambient CO risk adjusted phototherapy threshold for the management of neonatal hyperbilirubinemia: a randomized clinical trial.World journal of pediatrics : WJP · 2025Trial
- Prevalence, aetiology, and treatment needs of neonates with G6PD deficiency in Central Peninsular Malaysia.Scientific reports · 2026Article
- Glucose-6-phosphate dehydrogenase (G6PD) deficiency is associated with elevated mean corpuscular volume (MCV) and bilirubin.BMC genomic data · 2026Article
- Glucose-6-phosphate dehydrogenase deficiency and the risk of developing systemic lupus erythematosus.Frontiers in medicine · 2026Article
- G6PD deficiency as a underrecognized genetic risk factor for rare neurological disorders: evidence from a population-based genetic analysis.Frontiers in genetics · 2026Article
- Resolving haplotypes of the glucose-6-phosphate dehydrogenase gene using long-range polymerase chain reaction and Oxford Nanopore sequencing.Biology methods & protocols · 2026Article
- Establishment of reference interval (RI) for G6PD/6PGD ratio in adults from Yangjiang, China.Annals of hematology · 2025Article
- Opportunities and Challenges of Population Pharmacogenomics.Annals of human genetics · 2025Review
- Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.Scientific reports · 2025Article
- Integrated Phenotypic and Genotypic Approaches for Accurate Diagnosis of G6PD Deficiency: Implications for Drug Safety in Thailand.Pharmacology research & perspectives · 2025Article
- Improved genetic screening with zygosity detection through multiplex high-resolution melting curve analysis and biochemical characterisation for G6PD deficiency.Tropical medicine & international health : TM & IH · 2025Article
- Regional patterns of genetic variants in expanded carrier screening: a next-generation sequencing pilot study in Fujian Province, China.Frontiers in genetics · 2025Article
- Exploring Appropriate Reference Intervals and Clinical Decision Limits for Glucose-6-Phosphate Dehydrogenase Activity in Individuals From Guangzhou, China.Annals of laboratory medicine · 2024Article
- The effect of single low-dose primaquine treatment for uncomplicated Plasmodium falciparum malaria on haemoglobin levels in Ethiopia: a longitudinal cohort study.Malaria journal · 2024Observational
- The effect of single low-dose primaquine treatment for uncomplicated Plasmodium falciparum malaria on hemoglobin levels in Ethiopia: a longitudinal cohort study.Research square · 2024Article
- Screening results and mutation frequency analysis of G6PD deficiency in 1,291,274 newborns in Huizhou, China: a twenty-year experience.Annals of hematology · 2024Article
- Screening and the analysis of genotypic and phenotypic characterization of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Fujian province, China.Frontiers in genetics · 2024Article
- Use of trimethoprim- sulfamethoxazole for treatingFrontiers in medicine · 2024Article
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6 authors at 3 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common hereditary disorder in China. The existing prevalence and molecular epidemiology of G6PD deficiency in China were geographically limited. In this study, the spectrum of G6PD gene mutations was well characterized in a large and diverse population all over the country; and the correlation of genotype and enzyme activity phenotype was explored for the first time. The results showed that the overall prevalence of G6PD deficiency in China was 2.10% at the national level. The top six common mutations were c.1388 G>A, c.1376 G>T, c.95 A>G, c.392 G>T, c.871 G>A and c.1024 C>T, accounting for more than 90% of G6PD deficient alleles. Compound mutation patterns were frequently observed in females with severe deficiency. The distribution of G6PD activities depended on the type of mutation patterns and genders. Hemizygote, homozygote, and compound heterozygote were predominantly associated with severe G6PD deficiency, whereas heterozygotes with single mutation mainly presented moderate enzyme deficiency. A significant gap between G6PD activities in hemizygous and normal males was observed, and yet, the overall distribution of that in females carrying missense mutations was a continuum from G6PD severely deficient to normal. This is the first report of discussing the association between G6PD genetic variants in the Chinese and enzyme activity phenotypes.
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