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dc.contributor.authorDuangdao Nantakomolen_US
dc.contributor.authorดวงดาว นันทโกมลen_US
dc.contributor.authorPaul, Ricken_US
dc.contributor.authorAttakorn Palasuwaen_US
dc.contributor.authorอรรถกร ปาละสุวรรณen_US
dc.contributor.authorDay, Nicholas P.J.en_US
dc.contributor.authorWhite, Nicholas J.en_US
dc.contributor.authorMallika Imwong-
dc.contributor.authorมัลลิกา อิ่มวงศ์-
dc.contributor.otherMahidol University. Faculty of Tropical Medicine. Department of Molecular Tropical Medicine and Geneticsen_US
dc.contributor.otherMahidol University. Faculty of Tropical Medicine. Mahidol Oxford Research Uniten_US
dc.date.accessioned2014-05-28T03:11:06Z-
dc.date.accessioned2016-09-29T15:39:28Z-
dc.date.available2014-05-28T03:11:06Z-
dc.date.available2016-09-29T15:39:28Z-
dc.date.copyright2013-
dc.date.created2014-05-28-
dc.date.issued2013-08-21-
dc.identifier.citationNantakomol D, Paul R, Palasuwan A, Day NP, White NJ, Imwong M, et al. Evaluation of the phenotypic test and genetic analysis in the detection of glucose-6-phosphate dehydrogenase deficiency. Malar J. 2013 Aug 21;12(1):289.en_US
dc.identifier.issn1475-2875 (electronic)-
dc.identifier.urihttp://repository.li.mahidol.ac.th/dspace/handle/123456789/746-
dc.description.abstractBACKGROUND: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is particularly prevalent in historically malaria-endemic countries. Although most individuals with G6PD deficiency are asymptomatic, deficiency can result in acute haemolytic anaemia after exposure to oxidative agents. A reliable test is necessary for diagnosing the deficiency to prevent an acute haemolytic crisis following, for example, anti-malarial treatment. The aim of this study was to investigate which method was the best predictor of this disorder. METHODS: The present study investigated four G6PD activity detections (fluorescence spot (FS), methaemoglobin reduction (MR), biochemical and cytochemical test). These methods accompanied with mutation analysis of blood samples were taken from 295 apparently healthy individuals with unknown G6PD deficiency status. RESULTS: Molecular characterization of 295 Thai adults revealed an overall prevalence of 14.2%. The G6PD Viangchan (871 G>A) was the most common (83.3%), followed by G6PD Mahidol (487G>A) (11.9%), and G6PD Union (1360 C>T) (4.8%). There were two cases of G6PD deficiency carrying the double mutations of Viangchan (871G > A)-Mahidol (487G > A) and Viangchan (871G > A)-Union (1360C > T). In comparison, the prevalence of G6PD deficiency was 6.1% by FS test and 7.1% by MR test. G6PD activity was 11 ± 2.5 IU/gHb in non-deficient females (mean ± SD), and 10.9 ± 0.6 IU/gHb in non-deficient males. The upper and lower limit cut-off points for partial and severe deficiency in adults were 5.7 IU/gHb (60% of the normal mean) and 0.95 IU/gHb (10% of the normal mean), respectively. All hemizygote, homozygote and double mutations were associated with severe enzyme deficiency (the residual enzyme activity <10% of the normal mean), whereas only 14.3% of the heterozygote mutations showed severe enzyme deficiency. Based on the cut-off value <5.7 IU/gHb, the quantitative G6PD assay diagnosed 83% of cases as G6PD-deficient. Using a cut-off number of negative cell >20% in the cytochemical assay to define G6PD deficiency, the prevalence of G6PD deficiency was closest to the molecular analysis (12.9% G6PD-deficient) compared to the others methods. CONCLUSION: The cytochemical method is a significant predictor of this disease, while FS and MR test are recommended for the detection of severe G6PD deficiency in developing countries.en_US
dc.language.isoenen_US
dc.rightsMahidol Universityen_US
dc.subjectCytochemical methoden_US
dc.subjectEnzymatic assayen_US
dc.subjectFluorescent spot testen_US
dc.subjectGlucose-6-phosphate dehydrogenase deficiencyen_US
dc.subjectMethaemoglobin reduction testen_US
dc.subjectOpen Access articleen_US
dc.titleEvaluation of the phenotypic test and genetic analysis in the detection of glucose-6-phosphate dehydrogenase deficiencyen_US
dc.typeResearch Articleen_US
dc.rights.holderBioMed Centralen_US
dc.contributor.correspondenceMallika Imwongen_US
dc.date.accepted2013-08-18-
dc.identifier.doi10.1186/1475-2875-12-289-
dc.identifier.urlhttp://www.malariajournal.com/content/pdf/1475-2875-12-289.pdf-
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