Establishment of reference interval (RI) for G6PD/6PGD ratio in adults from Yangjiang, China

This study aimed to explore reference interval (RI) for the determination of glucose-6-phosphate dehydrogenase (G6PD) deficiency in adults by means of G6PD/6PGD ratio assay. Given that G6PD/6PGD exhibits differences between male and female, the currently available RI of G6PD/6PGD is not applicable for screening G6PD deficiency in local population. This study investigates RI for the G6PD/6PGD in Yangjiang, providing valuable insights for clinical decision-making and treatment. A total of 5,186 individuals were included in this study, comprising 2,386 males and 2,800 females. G6PD/6PGD of these individuals was determined. G6PD genotypes and thalassemia genotypes of different groups were diagnosed, followed by relevant statistical analyses, and RI was determined using a non-parametric approach, defined by the 2.5th and 97.5th percentiles of the distribution. In Yangjiang, RI for G6PD/6PGD was 1.32-2.08 in male and 1.19-2.03 in female. The adjusted male median (AMM) and the normal male median (NMM) values were 1.68 and 1.69, respectively. Among the population with G6PD gene mutations, the upper limit of G6PD/6PGD RI was 0.5 for male. A 45% (G6PD/6PGD = 0.7605) threshold of the NMM could be used to estimate the probability of G6PD variants. When G6PD/6PGD was 0.7605, male had a variant-positivity rate of 97.39% and female was 92.31%. The G6PD/6PGD ratio measurements in this study enable more accurate assessment of G6PD activity levels in the Yangjiang population. These findings provide clinically relevant insights for optimizing treatment strategies and enhancing the prediction and management of G6PD deficiency.