Publication: Evaluation of the phenotypic test and genetic analysis in the detection of glucose-6-phosphate dehydrogenase deficiency
Accepted Date
2013-08-18
Issued Date
2013-08-21
Copyright Date
2013
Resource Type
Language
eng
ISSN
1475-2875 (electronic)
Rights
Mahidol University
Rights Holder(s)
BioMed Central
Bibliographic Citation
Nantakomol 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.
Suggested Citation
Duangdao Nantakomol, ดวงดาว นันทโกมล, Paul, Rick, Attakorn Palasuwa, อรรถกร ปาละสุวรรณ, Day, Nicholas P.J., White, Nicholas J., Mallika Imwong, มัลลิกา อิ่มวงศ์ Evaluation of the phenotypic test and genetic analysis in the detection of glucose-6-phosphate dehydrogenase deficiency. Nantakomol 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.. doi:10.1186/1475-2875-12-289 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/746
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Title
Evaluation of the phenotypic test and genetic analysis in the detection of glucose-6-phosphate dehydrogenase deficiency
Corresponding Author(s)
Abstract
BACKGROUND: 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.