G6PD Deficiency in the Gulf Region: A Systematic Review of Prevalence, Genotypic, and Phenotypic Variants

Abstract

IGlucose-6-phosphate dehydrogenase (G6PD) deficiency, an X-linked recessive disorder affecting approximately 400 million individuals globally, impairs red blood cells’ ability to counter oxidative stress, presenting primarily as neonatal jaundice and hemolytic anemia, with significant prevalence in malaria-endemic regions. This systematic review examines the prevalence, genotypic and phenotypic diversity, and demographic characteristics of G6PD deficiency specifically within the Gulf Region. The review was conducted according to PRISMA guidelines and registered with PROSPERO (ID: CRD42024514065). A comprehensive literature search was performed in February 2024 using PubMed and Web of Science databases via Rayyan, including studies published in English discussing G6PD deficiency in the Gulf region published up to January 2024, with data independently screened and extracted by multiple authors. Eligible study designs included randomized controlled trials, cohort studies, cross-sectional studies, case-control studies, case series, and case reports, with quality assessments performed using the Newcastle-Ottawa Scale for cohort studies and the Joanna Briggs Institute checklist for cross-sectional studies. The systematic search identified 181 articles, narrowed to 36 after screening. Most studies were cross-sectional (n=32) and conducted primarily in Saudi Arabia. Sample sizes ranged from 23 to 48,889 (total=145,174), showing prevalence between 0.67%-42.7%, highest in Saudi Arabia’s Eastern province. The Mediterranean mutation was most common; favism (55%-89%) was a frequent clinical manifestation, while many individuals remained asymptomatic, highlighting variable expressivity of G6PD deficiency. The review demonstrates that the prevalence of G6PD deficiency varies significantly across the Gulf region (0.67%–42.7%), influenced by geographic location, historical malaria endemicity, and consanguinity, with the Mediterranean variant being the most common genetic mutation. Limitations include variability in methodologies, underrepresentation of certain regions, and lack of longitudinal studies, highlighting the need for larger-scale studies to clarify prevalence, genetic variants, and long-term clinical outcomes.

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