Glucose-6-phosphate dehydrogenase (G6PD) deficiency is associated with elevated mean corpuscular volume (MCV) and bilirubin

BACKGROUND: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common hereditary hemolytic disorder. To provide evidence for the clinical evaluation and management of this disorder, we investigated the differences in erythrocyte and biochemical parameters between G6PD-deficient and G6PD-normal individuals. After excluding samples with positive preliminary thalassemia screening, anemia, or liver dysfunction, a total of 2,582 health checkup individuals, 236 male military conscripts, and 3,125 males undergoing preconception check-ups were enrolled. All subjects were divided into a G6PD-normal group (G6PD-N group) and a G6PD-deficient group (G6PD-D group) using G6PD/6PGD ratio or quantitative G6PD activity assay. Statistical analyses were performed to compare erythrocyte and biochemical parameters between the two groups. Additionally, 151 samples with macrocytosis (mean corpuscular volume [MCV] > 100 fL) were subjected to G6PD/6PGD determination and genetic testing to investigate the prevalence of G6PD deficiency in this subpopulation. RESULTS: Across all study populations, MCV and bilirubin were significantly higher in the G6PD-D group than in the G6PD-N group (p < 0.05). Except for the female health checkup group (G6PD activity), red blood cell (RBC) counts were lower in the G6PD-D group in all other populations. In addition, hemoglobin (HGB) levels were significantly lower in the G6PD-D group in the health checkup population (G6PD/6PGD method) (p < 0.05). Among the 151 "healthy" macrocytosis samples, 90 cases (59.60%, 90/151) were identified as G6PD-deficient, representing a significantly higher prevalence compared to the general study population. CONCLUSIONS: Reduced erythrocyte survival induced by G6PD deficiency may trigger compensatory bone marrow hyperplasia, which increases the proportion of newly synthesized erythrocyte and thereby elevates MCV. In endemic areas of G6PD deficiency, a marked increase in MCV may serve as a potential indicator for the diagnosis of G6PD deficiency.