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.