Comparative Analysis of Qualitative G6PDH Assay with Gold Standard Quantitative Assay to Detect G6PD Deficiency in Pediatric Patients

Background: G6PD is the rate limiting enzyme in the pentose phosphate pathway that protects human cells from oxidative stress. G6PD deficiency is one of the most common enzymopathies in humans, affecting an estimated 400 million individuals worldwide. The main objective of our study is to Compare diagnostic accuracy of screening qualitative G6PDH assay with standard quantitative assay. Methodology and Results: This is 2 years study comprising 250 confirmed cases of G6PD deficiency by UDILIPSE G6PD quantitative assay. Of which 210 were boys and 40 were girls. 40 cases were reported as false Normal by G6PDH screening assay in boys and 28 in girls. Discussion: Our results were comparable to studies conducted by Mohammed islam, Daae LN et al., Bancone G et al., Kahn M et al., Conclusion: It can be safely concluded that male patients with suspected G6PD deficiency can be screened for G6PDH assay and if tests are indeterminate then can be proceed to quantitative assay. For female patients it is recommended to omit screening test and can directly perform quantitative G6PDH assay in order not to miss G6PD deficient carriers.