RESUMEN
INTRODUCTION: Recent evidence suggests that ferroportin (FPN) Q248H may confer a survival advantage against malaria by reducing erythrocytic intracellular iron in Africans. We investigated if FPN Q248H mutation, that is prevalent in Batswana, is a factor in limiting the susceptibility to Plasmodium falciparum malaria. METHODS: 264 archived dried blood spot samples (183 P. falciparum malaria cases and 81 controls, matched for geographical region and season for equal exposure) were genotyped. Human and P. falciparum DNA was extracted using Chelex-100 resin and P. falciparum molecular confirmation performed. Ferroportin Q248H mutation was identified by restriction fragment length polymorphism. The prevalence of the FPN Q248H mutation and allele frequency and the accompanying 95% confidence interval were calculated. A qPCR method was employed to estimate P. falciparum parasitaemia. Association between FPN and malaria susceptibility was tested using Pearson Chi-square test and Mood's median test was used to compare P. falciparum parasitaemias according to FPN Q248H mutation. RESULTS: All samples were successfully genotyped. The FPN Q248H allele frequency was 0.08 (95% CI: 0.05-0.11) in cases and 0.08 (95% CI: 0.02-0.14) in controls, consistent with Hardy-Weinberg equilibrium. The prevalence of FPN Q248H phenotype was comparable in patients with P. falciparum malaria and in un-infected individuals, 16.4% (95% CI: 11.0-21.8) vs 14.8% (95% CI: 7.1-22.5), P = 0.746. In addition, no association of presence of FPN Q248H with reduced parasitaemia was recorded, P = 0.837. CONCLUSION: In this small study, FPN Q248H polymorphism prevalence was comparable between patients with P. falciparum malaria and control subjects in the low-endemic setting of Botswana.