Glucose‐6‐phosphate dehydrogenase laboratory assay: How, when, and why?

Abstract

SummaryGlucose 6-phosphate dehydrogenase (G6PD) deficiency is the most common defect of red blood cells. Although some different laboratory techniques or methods are employed for the biochemical screening, a strict relationship between biochemists, clinicians, and molecular biologists is necessary for a definitive diagnosis. This article represents an overview on the current laboratory tests finalized to the screening or to the definitive diagnosis of G6PD-deficiency, underlying the problems regarding the biochemical and molecular identification of heterozygote females other than those regarding the standardization of the clinical and laboratory diagnostic procedures. Finally, this review is aimed to give a flow-chart for the complete diagnostic approach of G6PD-deficiency.

Validation of the rapid test Carestart(tm) G6PD among malaria vivax-infected subjects in the Brazilian Amazon

“…However, like the FST, the Carestart™ G6PD assay has similar diffi culty in identifying individuals with borderline enzyme activity. Our study estimated an assay sensitivity of 61.5% for individuals with ≤30% of activity, a range of activity in which FST also offers similar performance (12) . In a study published by Baird et al (21) , the Carestart™ G6PD test showed non-inferiority in accuracy when compared to the FST.…”

“…The slight difference in the results of the two studies may be related to the techniques used for the quantitative analysis, which is very sensitive to small changes in the protocol (12) (30) . On the basis of this fi nding in non-malarial participants (excluding all individuals with activity ≤1IU/gHb), it was possible to calculate the normal range of enzyme activity for the local male population, namely, 3.9 to 9.8 IU/gHb.…”

“…It is defi ned by alteration in the protein structure of G6PD, and thereby its antioxidant activity. Most commonly, this alteration is due to a single amino acid substitution; double substitutions or amino acid depletions are rare (12) .…”

Prevalence of glucose-6-phosphate dehydrogenase (G6PD) deficiency in southeast Iran: implications for malaria elimination

“…The semi-quantitative fluorescent spot test described by Beutler [28] and subsequently modified [29], was used to identify enzyme defects such as galactosemia and G6PD deficiency. This is a rapid, simple, sensitive, and inexpensive test that visually detects NADPH produced by G6PD under ultraviolet light [30,31]. The fluorescent spot test is reliable for the detection of hemizygous males and homozygous females with a sensitivity and specificity of 100% and 99%, respectively [31].…”

Optimizing a multiplex high resolution melting curve to diagnose G6PD deficiency based on viangchan and canton mutations

“…The mutations occurring inside the active site or in the promoter region, as well as the de no vo mutations (causing sporadic variants) have also been identified but they are quite rare. Besides,the large deletions and frame-shift mutations that lead to the complete lacking of the G6PD functionality are not observed(Anna L. Peters and Noorden, 2009;Minucci et al, 2009;Philip J Mason, 2007). Therefore, most of the G6PD deficient cases can be diagnosed by detecting the mutations occurring on the G6PD gene.…”