title: Glucose-6-phosphate dehydrogenase (G6PD) mutations in Thailand: G6PD Viangchan (871G>A) is the most common deficiency variant in the Thai population.
abstract: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common hereditary disorder in humans. Through a population study for G6PD deficiency using a cord blood quantitative G6PD assay in Bangkok, Thailand, we found that the prevalence of G6PD deficiency is 11.1% in Thai male (N=350) and 5.8% in female (N=172) cord blood samples. Among the neonates with hyperbilirubinemia, the prevalence of G6PD deficiency is 22.1% in males (N=140) and 10.1% in females (N=89). We developed a PCR-restriction enzyme-based method to identify G6PD Viangchan (871G>A), and searched for this and 9 other mutations in DNA from G6PD deficient blood samples. G6PD Viangchan (871G>A) was the most common mutation identified (54%), followed by G6PD Canton (1376G>T; 10%), G6PD Mahidol (487G>A; 8%), G6PD Kaiping (1388G>A; 5%), G6PD Union (1360C>T; 2.6%) and "Chinese-5" (1024C>T; 2.6%). Among 20 neonates with hyperbilirubinemia, G6PD Viangchan was also most frequently identified (60%), followed by G6PD Canton (10%), G6PD Mahidol, G6PD Union, and G6PD Kaiping (5% each). G6PD Viangchan appears from this study to be the most common G6PD mutation in the Thai population, bringing into question previous reports that G6PD Mahidol is most prevalent. G6PD Viangchan, together with G6PD Mahidol and G6PD Canton, are responsible for over 70% of G6PD deficiency in this study of Thais. With the data from other Southeast Asian ethnic groups such as Laotians, G6PD Viangchan (871G>A) is probably the most common variant in non-Chinese Southeast Asian population.
authors.affiliation: Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok 10330, Thailand.
authors.forename: I
authors.initials: I
authors.lastname: Nuchprayoon
authors.forename: S
authors.initials: S
authors.lastname: Sanpavat
authors.forename: S
authors.initials: S
authors.lastname: Nuchprayoon
mesh_terms: D044466:Asian People / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency / Q000235:genetics*; D005820:Genetic Testing; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D007231:Infant, Newborn; D007567:Jaundice, Neonatal / Q000201:enzymology / Q000208:ethnology / Q000235:genetics* / Q000378:metabolism; D008297:Male; D008661:Metabolism, Inborn Errors / Q000201:enzymology / Q000208:ethnology / Q000235:genetics* / Q000378:metabolism; D009154:Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D013785:Thailand
chemical_list: D005954:Glucosephosphate Dehydrogenase