Fine mapping of Glucose 6 Phosphate Dehydrogenase (G6PD) deficiency in rural area of South West Odisha using the clinical, hematological and molecular approach

Introduction: The aim of the study was to enumerate the clinical, hematological, and molecular spectrum of G6PD deficiency in malaria endemic regions of south west Odisha. Methods: Diagnosis of G6PD deficiency was made by using the Di-chloroindophenol Dye test in two south west districts (Kalahandi and Rayagada) of Odisha State. Demographic and clinical history was taken from each individual using a pre-structured questionnaire. Molecular characterization of G6PD deficiency was done using PCR-RFLP and Sanger sequencing. Results: A total of 1981 individuals were screened; among them, 59 (2.97%) individuals were G6PD deficient. The analysis revealed that G6PD deficiency was more among males (4.0%) as compared to females (2.3%). Prevalence of G6PD deficiency was significantly higher among tribal populations (4.8%) as compared to non-tribal populations (2.4%) (p=0.012, OR=2.014, 95%CI=1.206-3.365). Twenty four individuals with G6PD deficiency had mild to moderate anemia, whereas 26 G6PD deficient individuals had a history of malaria infection. Among them, 3 (11.5%) required blood transfusion during treatment. Molecular analysis revealed G6PD Orissa as the most common (88%) mutation in the studied cohort. G6PD Kaiping (n=3), G6PD Coimbra (n=2) and G6PD Union (n=1) were also noted in this cohort. Conclusion: The cumulative prevalence of G6PD deficiency in the present study is below the estimated national prevalence. G6PD deficiency was higher among tribes as compared to non-tribes. Clinical significance for G6PD deficiency was noted only in malaria infected individuals. Rare G6PD Kaiping and G6PD Union variants were also present.