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Publication
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| Title of Article |
Prevalence and Molecular Characterization of Glucose-6-phosphate Dehydrogenase (G6PD) Deficiency in Females from Previously Malaria Endemic Regions in Northeastern Thailand and Identification of a Novel G6PD variant |
| Date of Acceptance |
1 April 2021 |
| Journal |
| Title of Journal |
Mediterranean Journal of Hematology and Infectious Diseases |
| Standard |
SCOPUS |
| Institute of Journal |
Università Cattolica del Sacro Cuore |
| ISBN/ISSN |
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| Year of Publication |
2021 |
| Page |
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| Abstract |
Introduction: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common X-linked enzymopathy, highly prevalent in areas where malaria is or has been endemic. Prevalence of G6PD deficiency and characterization of G6PD variants in females from previously malaria endemic areas of northeastern Thailand remain unstudied.
Methods: Prevalence of G6PD deficiency was determined by a fluorescent spot test (FST), quantitative G6PD activity assay and multiplex allele specific (AS)- and restriction fragment length polymorphic (RFLP)-PCR developed for detection of common G6PD variants in the Thai population.
Results: Prevalence of G6PD deficiency in female samples (n = 355) was 18% by FST, 29.6% by quantitation of G6PD activity and 28.1% by PCR-based genotyping. The most common variant was G6PD Viangchan (54%), followed by G6PD Canton (11%) and G6PD Union (11%); in addition, a novel heterozygous variant, G6PD Khon Kaen (c.305T>C, p.F102S), was identified. The majority of heterozygotes expressed G6PD activity within intermediate deficiency range (30-70% median normal enzyme activity).
Conclusion: High prevalence of G6PD deficiency was present in females from northeastern Thailand, the majority being due to heterozygosity of G6PD variants. The findings will have a bearing on an inclusion of primaquine in antimalarial-based policies for malaria elimination in populations with high prevalence in G6PD deficiency. |
| Keyword |
Female, G6PD deficiency, Northeasternern Thailand, Novel G6PD variant |
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| Reviewing Status |
มีผู้ประเมินอิสระ |
| Status |
ได้รับการตอบรับให้ตีพิมพ์ |
| Level of Publication |
นานาชาติ |
| citation |
false |
| Part of thesis |
true |
| Attach file |
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| Citation |
0
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Journal Publication
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