Exploring molecular techniques to unwind possible mutations in the exons, introns and promoter regions of glucose-6-phosphate dehydrogenase (G-6-PD) gene is indispensable. Such information would improve neonatal health and haemolytic diseases including malaria control especially in malaria-endemic areas as the severity of these diseases is associated with the type of molecular variants. G-6-PD deficiency literature was independently searched from Science direct and PubMed databases. Sixty selected cross-sectional studies published between 1991 and 2020 were assessed for quality assessments with Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) Statement. The inter-rater reliability was good (kappa=0.76). The study reveals that majority of the mutations were G-6-PD Africa (G202A/A376G), followed by G-6-PD Mediterranean (C563T) with occurrence among African, Asian, Europe and Middle East populations. The G-6-PD (A-) (A376G/G202A) variants were found among Americans and the single mutation A376G co-exists with other G-6-PD variants to produce double mutations. The review concludes that m G-6-PD mutations were not found in the promoter region of the gene. The observed G-6-PD (A-) variant is a frequent polymorphism across the globe, and it molecular characterization could serve as a first line approach for identifying other variants.
Keywords: G-6-PD mutations, malaria control, acute haemolytic anaemia