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Assessment of Common Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency Allelic Types in Ethiopia

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Background: Building on thedeclining trend of malaria in Ethiopia, theFederal Ministry of Health aims to eliminate malaria from select low transmission settings by 2020. As Plasmodium falciparum and P.vivax are co-endemic in Ethiopia the use of primaquine is indicated for both transmission interruption and radical cure, respectively. However, the knowledge gap in the prevalence of G6PD deficiency and its associated distribution and variants havelimited the use of primaquine. Methods: Dried blood spot (DBS) samples were collected in 2011 as part of the national Malaria Indicator Survey–a multi-stage nationally representative survey of all malaria-endemic areas of Ethiopia. A randomly selected subset of the DBS was genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique. Considering the geographical position and ethnic mix of the country, three common G6PD variants:G6PD*A (A376G), G6PD*A- (G202A) and Mediterranean (C563T) were investigated in 2000 DBS samples. Result: Of the 2000 samples selected, 1535(76.8%) were available for genotyping, among which 54% were from females. G6PD*A (A376G, 8.99%) was the only genotype detected with no samples positive for A- or Mediterranean variants. The result notedregional variation with the highest observed in Southern Nation and Nationalities Peoples’ Region (11.33%),and the lowest in Harari(0%).The other regionalprevalences were 5.73% in Amhara, 9.48% in Oromia, 9.4%in Gambella and Benishangul Gumuz combined 10.94% in Tigray and 7.03% in Afar and Somali combined. Of the A mutation 31% were hemizygous males, 62.1% and 6.8% were heterozygous and homozygous females, respectively.Discussion: The results support the limited historical evidence of low G6PD deficiency prevalence in Ethiopia. The A376G (A)mutation observed is a mild deficiency causing around 85% of thenormal enzymatic activity with little clinical significance. The more severe G6PD deficiencyallelic types, G202A (A-) and C563T (Mediterranean), common in Africa were not observed, supporting the safe use of primaquine especially the single low dose for falciparum in Ethiopia.