Prevalence and molecular characterization of G6PD variants among subjectively healthy Eritrean ethnic groups

Introduction: Glucose-6-phosphate dehydrogenase deficiency is the most prevalent X-linked enzymatic deficiency affecting more than 400 million people worldwide. To date, Eritrean population have never been genotyped for glucose-6-phosphte dehydrogenase (G6PD) variants. The aim of this study is to characterize and determine the prevalence of four common G6PD variants in subjectively healthy all nine Eritrean ethnic groups.Methods: A total of 401 finger prick dried blood spot samples were collected onto 3 mm Whatman filter paper from volunteer unrelated subjectively healthy nine ethnic groups residing in all six zobas (regions) of Eritrea. Analysis was performed using polymerase chain reaction/restriction fragment length polymorphism for four common G6PD variants, namely, normal G6PD B, G6PD A (A376G), G6PD A- (G202A) and G6PD Mediterranean (C563T).Results: Molecular studies performed on a total 401 subjectively healthy Eritrean ethnic groups showed that 352 (89.1%) carried the normal G6PD B allele and 43 (10.9%) had the G6PD A (A376G) variant. The median age of study participants was 33 years, and 75% of the study participants were under 46 years. No cases of G6PD A- and Mediterranean mutations were identified, leaving six samples uncharacterized.Conclusions: The current study showed a high prevalence of normal G6PD B and G6PD A genotypes among subjectively healthy Eritrean ethnic groups.These findings are similar to those reported from neighboring countries, Ethiopia and Sudan and other parts of the world