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Abstract
BackgroundGlucose-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.MethodsThe 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.ResultsMolecular 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.ConclusionThe 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.
Highlights
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is prevalent in historically malaria-endemic countries
Its key role in metabolism is to provide reducing power in the cytoplasm in the form of NADPH. This role is important in red blood cells where NADPH serves as an electron donor for detoxification of hydrogen peroxide via reduced glutathione, and its production is crucial for the protection of cell from oxidative stress [1]
The fluorescent spot test (FS test) and methaemoglobin reduction test (MR test) were performed on heparinized blood, whilst the G6PD activity assay was performed on ACD blood
Summary
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is prevalent in historically malaria-endemic countries. Most individuals with G6PD deficiency are asymptomatic, deficiency can result in acute haemolytic anaemia after exposure to oxidative agents. Its key role in metabolism is to provide reducing power in the cytoplasm in the form of NADPH. This role is important in red blood cells where NADPH serves as an electron donor for detoxification of hydrogen peroxide via reduced glutathione, and its production is crucial for the protection of cell from oxidative stress [1]. Discrimination between hemizygously deficient males or homozygously deficient females and non-deficient individuals, on the basis of the determination of G6PDH activity in haemolysate, remains insufficient
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