A-094 Mindray G6PDH –An Efficient and Accurate Method for Identifying G6PD Deficiency Population

Background Glucose-6-phosphate Dehydrogenase (G6PD) testing is used for diagnosis of G6PD deficiency. World Health Organization (WHO) advises that an individual’s G6PD status should be determined to guide dose and duration of anti-malarial drugs, and there are still unmet needs for G6PD testing to early screen neonates. The existing G6PD screening methods usually require multiple steps of manual operation. The results of these methods are often impacted by the variability or errors in manual operation. Therefore, they are difficult to accurately identify the population with G6PD mutation. This study evaluated the performance of a novel fully-automated G6PD/Hb detection method (G6PDH), and compared its diagnostic value with other methods, so as to provide a more precise technical means for the early screening and diagnosis of the disease. Methods In this study, the automatic lysis mode of Mindray BS-2800M analyzer was used to realize the G6PD/Hb twin-tests in parallel, in which G6PD and Hb (hemoglobin) were detected simultaneously using the same blood sample, and the G6PD/Hb ratio was calculated, defined as G6PDH. The age and gender specific reference intervals with this method were established. Based on the results of Multiplex Melting Curve Analysis (MMCA, a genetic mutation detecting method), the diagnostic efficacy and accordance rate of G6PDH and other biochemical methods such as G6PD/6PGD, G6PD single enzyme method were analyzed. Results According to the guidance of WHO, the reference intervals of G6PDH in non-neonates were established as <2.31, =2.31, 2.31∼6.17, =6.17 for deficient males/females, normal males, intermediate females, and normal females. For neonates, they were <4.14, =4.14, 4.14∼11.03, =11.03, respectively. Compared with the results of MMCA method on 185 samples, the sensitivity and accuracy of the G6PDH method were 93.5% and 91.7% respectively, which were significantly higher than those of G6PD/6PGD method (74.0%, 74.4%) and G6PD single enzyme method (68.3%, 67.8%). The Youden index of G6PDH method was 0.81, higher than that of 0.74 and 0.63 by other two methods, respectively. And the missed diagnosis rate was 6.5%, lower than that of the other two methods (26.0%, 31.7%). Moreover, in 64 female patients with heterozygous mutation, the diagnose accordance rate of G6PDH was 87.5%, while the other two was 51.6% and 39.1%. Conclusion Mindray provides an innovative automated G6PDH method on BS-2800M to accurately identify G6PD deficiency population, and significantly reduces the missed diagnosis rate of high-risk population with G6PD deficiency, especially for female heterozygous mutation. The G6PDH method could be well used for the screening, diagnosis and monitoring of G6PD deficiency, and could be considered as the preferred method in clinical laboratory.