Cited by 99Neonatal Health and BiochemistryMalaria Research and ControlHemoglobinopathies and Related Disorders

Characterization of G6PD Genotypes and Phenotypes on the Northwestern Thailand-Myanmar Border

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Bancone, Germana, Chu, Cindy S., Somsakchaicharoen, Raweewan, Chowwiwat, Nongnud, Parker, Daniel M., Charunwatthana, Prakaykaew, White, Nicholas J., Nosten, François H.·2014·PLoS ONE

Abstract

Mutations in the glucose-6-phosphate dehydrogenase (G6PD) gene result in red blood cells with increased susceptibility to oxidative damage. Significant haemolysis can be caused by primaquine and other 8-aminoquinoline antimalarials used for the radical treatment of Plasmodium vivax malaria. The distribution and phenotypes of mutations causing G6PD deficiency in the male population of migrants and refugees in a malaria endemic region on the Thailand-Myanmar border were characterized. Blood samples for G6PD fluorescent spot test (FST), G6PD genotyping, and malaria testing were taken from 504 unrelated males of Karen and Burman ethnicities presenting to the outpatient clinics. The overall frequency of G6PD deficiency by the FST was 13.7%. Among the deficient subjects, almost 90% had the Mahidol variant (487G>A) genotype. The remaining subjects had Chinese-4 (392G>T), Viangchan (871G>A), Açores (595A>G), Seattle (844G>C) and Mediterranean (563C>T) variants. Quantification of G6PD activity was performed using a modification of the standard spectrophotometric assay on a subset of 24 samples with Mahidol, Viangchan, Seattle and Chinese-4 mutations; all samples showed a residual enzymatic activity below 10% of normal and were diagnosed correctly by the FST. Further studies are needed to characterise the haemolytic risk of using 8-aminoquinolines in patients with these genotypes.

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Authors
Bancone, G., Chu, C. S., Somsakchaicharoen, R., Chowwiwat, N., Parker, D. M., Charunwatthana, P., White, N. J., & Nosten, F. H.
Affiliations
Mahidol University (TH)
Corresponding author
Bancone, Germana
Venue
PLoS ONE
Published
2014-12-23
Volume
9
Issue
12
Pages
e116063
ISSN
1932-6203 (ISSN-L)
OpenAlex
W2025634999
Cited by
99
References
37
Citations by year
2026: 3 · 2025: 3 · 2024: 4 · 2023: 7 · 2022: 22 · 2021: 16 · 2020: 3 · 2019: 7 · 2018: 12 · 2017: 9 · 2016: 9 · 2015: 4
FWCI
6.89
Type
journal article
Language
en
Open access
Locations
  • PLoS ONE (publishedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion)
  • eScholarship (California Digital Library) (submittedVersion, cc-by)
Funders
  • Wellcome Trust (089179, 093956, 093956/Z/10/Z)
  • Mahidol University
Topics
  • Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Neonatal Health and Biochemistry
  • Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Malaria Research and Control
  • Health Sciences › Medicine › Genetics › Hemoglobinopathies and Related Disorders
Keywords
glucose-6-phosphate dehydrogenase deficiency, G6PD variants, fluorescent spot test, 8-aminoquinolines, primaquine, vivax malaria, hemolysis, refugees and migrants, Thai-Myanmar border, G6PD activity
MeSH terms
Adolescent, Adult, Female, Genotype, Glucosephosphate Dehydrogenase, Glucosephosphate Dehydrogenase Deficiency, Humans, Malaria, Male, Plasmodium falciparum, Plasmodium vivax, Thailand, Polymorphism, Single Nucleotide, Asian People, Young Adult

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