ReviewPathogens (Basel, Switzerland)2022
Genetic Variants of Glucose-6-Phosphate Dehydrogenase and Their Associated Enzyme Activity: A Systematic Review and Meta-Analysis.
Review in Pathogens (Basel, Switzerland), 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 2 of them syntheses that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
23 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Systematic review and individual patient data meta-analysis on glucose- 6 - phosphate dehydrogenase activities measured by a semi-quantitative handheld biosensor.Malaria journal · 2025Pooled it
- Performance of quantitative point-of-care tests to measure G6PD activity: An individual participant data meta-analysis.PLoS neglected tropical diseases · 2025Pooled it
- Red blood cell transfusion survival in sickle cell disease is reduced by donor characteristics and recipient spleen activity.Blood advances · 2026Trial
- Malaria-Related Host Genetic Variation in an Endemic Population of Southern Senegal.International journal of molecular sciences · 2026Article
- G6PD deficiency in Indonesia: a systematic review and update of prevalence and variant maps in the context of malaria elimination.The Lancet regional health. Western Pacific · 2026Article
- Performance evaluation of an automated method for accurate identification of glucose-6-phosphate dehydrogenase deficiency on the BS-2800M analyzer.Malaria journal · 2026Article
- No G6PD A- (G202A) variant detected amongMalariaWorld journal · 2026Article
- Rapid detection of G6PD deficiency SNPs using a novel amplicon-based minion sequencing assay.Scientific reports · 2025Article
- Exploring the Association Between Glucose-6-Phosphate Dehydrogenase Deficiency and Autism Spectrum Disorder: A Narrative Review.Children (Basel, Switzerland) · 2025Review
- G6PD trait: societal importance to ensure well-being of female heterozygotes for health and childbirth.Pediatric research · 2025Review
- Addressing health equity for breastfeeding women: primaquine for Plasmodium vivax radical cure.Malaria journal · 2024Review
- New WHO classification of genetic variants causing G6PD deficiency.Bulletin of the World Health Organization · 2024Article
- Operational feasibility of Plasmodium vivax radical cure with tafenoquine or primaquine following point-of-care, quantitative glucose-6-phosphate dehydrogenase testing in the Brazilian Amazon: a real-life retrospective analysis.The Lancet. Global health · 2024Observational
- Field evaluation of a novel semi-quantitative point-of-care diagnostic for G6PD deficiency in Indonesia.PloS one · 2024Article
- Revealing the secrets of Blue Zones.Frontiers in pharmacology · 2024Review
- Field assessment of the operating procedures of a semi-quantitative G6PD Biosensor to improve repeatability of routine testing.PloS one · 2024Article
- Article
- Substitution of arginine 219 by glycine compromises stability, dimerization, and catalytic activity in a G6PD mutant.Communications biology · 2023Article
- Potentially pathogenic and pathogenic G6PD variants.American journal of human genetics · 2023Article
- Prevalence of G6PD deficiency and diagnostic accuracy of a G6PD point-of-care test among a population at risk of malaria in Myanmar.Malaria journal · 2023Article
Corrections and comments
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Authors and funding
26 authors.
Funding
Abstract
Low glucose-6-phosphate dehydrogenase enzyme (G6PD) activity is a key determinant of drug-induced haemolysis. More than 230 clinically relevant genetic variants have been described. We investigated the variation in G6PD activity within and between different genetic variants. In this systematic review, individual patient data from studies reporting G6PD activity measured by spectrophotometry and corresponding the G6PD genotype were pooled (PROSPERO: CRD42020207448). G6PD activity was converted into percent normal activity applying study-specific definitions of 100%. In total, 4320 individuals from 17 studies across 10 countries were included, where 1738 (40.2%) had one of the 24 confirmed G6PD mutations, and 61 observations (3.5%) were identified as outliers. The median activity of the hemi-/homozygotes with A-(c.202G>A/c.376A>G) was 29.0% (range: 1.7% to 76.6%), 10.2% (range: 0.0% to 32.5%) for Mahidol, 16.9% (range 3.3% to 21.3%) for Mediterranean, 9.0% (range: 2.9% to 23.2%) for Vanua Lava, and 7.5% (range: 0.0% to 18.3%) for Viangchan. The median activity in heterozygotes was 72.1% (range: 16.4% to 127.1%) for A-(c.202G>A/c.376A>G), 54.5% (range: 0.0% to 112.8%) for Mahidol, 37.9% (range: 20.7% to 80.5%) for Mediterranean, 53.8% (range: 10.9% to 82.5%) for Vanua Lava, and 52.3% (range: 4.8% to 78.6%) for Viangchan. A total of 99.5% of hemi/homozygotes with the Mahidol mutation and 100% of those with the Mediterranean, Vanua Lava, and Viangchan mutations had <30% activity. For A-(c.202G>A/c.376A>G), 55% of hemi/homozygotes had <30% activity. The G6PD activity for each variant spanned the current classification thresholds used to define clinically relevant categories of enzymatic deficiency.
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