Glucose-6-phosphate dehydrogenase mutations in malaria endemic area of Thailand by multiplexed high?resolution melting curve analysis

Abstract Background Glucose-6-phosphate dehydrogenase (G6PD) deficiency, the most common enzymopathy in humans, is prevalent tropical and subtropical areas where malaria endemic. Anti-malarial drugs, such as primaquine tafenoquine, can cause haemolysis G6PD-deficient individuals. Hence, G6PD testing recommended before radical treatment against vivax malaria. Phenotypic assays have been widely used for screening but heterozygous females, random lyonization causes difficulty interpreting results. Over 200 variants identified, which form genotypes associated with differences degree of deficiency vulnerability to haemolysis. This study aimed assess frequency mutations using a newly developed molecular genotyping test. Methods A multiplexed high-resolution melting (HRM) assay was detect eight mutations, four be tested simultaneously. Validation method performed 70 samples. The test then applied screen 725 blood samples from people living along Thai–Myanmar border. enzyme activity these also determined water-soluble tetrazolium salts (WST-8) assay. Then, correlation between genotype analysed. Results sensitivity HRM detecting 100 % [95 confidence interval (CI): 94.87–100 %] specificity (95 CI: 87.66–100 %). overall prevalence studied population revealed by phenotypic WST-8 20.55 (149/725). In contrast, assay, 27.17 (197/725) subjects were shown mutations. detected this included single variants, Mahidol (187/197), Canton (4/197), Viangchan (3/197) Chinese-5 (1/197), two double + (1/197) Chinese-4 (1/197). broad range activities observed individuals carrying Mahidol, especially females. Conclusions HRM-based sensitive reliable facilitate detection heterozygotes, could useful supplementary approach high-throughput endemic administration tafenoquine.