Molecular characterization of Glucose-6-Phosphate Dehydrogenase: do single nucleotide polymorphisms affect hematological parameters in HIV positive patients?

Abstract Objectives: This descriptive, cross-sectional study aimed at evaluating the prevalence of G6PD deficiency, the 376A → G, 202G → A single nucleotide polymorphisms (SNPs) among HIV patients attending care at a teaching hospital in Ghana and determine if the SNPs are associated with a deranged hematological profile. Results: Out of the 200 participants, 13.0% (26/200) were G6PD deficient based on the methemoglobin reductase technique, with 1.5% (3/200) and 11.5% (23/200) presenting with partial and full enzyme defect, respectively. Among the 13.0% participants with G6PD deficiency, 19.2% (5/26), 30.8% (8/26), and 19.2% (5/26) presented with 376A → G only [Enzyme activity (EA): 1.19 U/g Hb], 202G → A only [EA: 1.41 U/g Hb], and G202/A376 SNPs [EA: 1.14 U/g Hb], respectively. Having the 376A → G mutation was associated with lower red blood cell (RBC) count [3.38 x106/µL (3.16-3.46) vs 3.95 x106/µL (3.53-4.41), p=0.010], but higher mean cell volume (MCV) [102.90 (99.40-113.0) vs 91.10 fL (84.65-98.98), p=0.041] and mean cell hemoglobin (MCH) [33.70 pg (32.70-38.50) vs 30.75 pg (28.50-33.35), p=0.038] whereas possessing the 202G → A mutation was associated with higher MCV only [98.90 fL (90.95-102.35) vs 91.10 fL (84.65-98.98), p=0.041] compared to G6PD non-deficient participants.