Human red blood cell polymorphisms prevalent in Colombian population and its protective role against malaria

Abstract

The populations infected with malaria have developed genetic defense mechanisms in order to protect themselves against the most serious complications of this disease. Those mechanisms have been associated from the perspective of co-adaptive process with some genetic diseases widely present in humans as sickle-cell disease, sickle cell trait and glucose-6-phosphate dehydrogenase deficiency (G6PD). Biochemically, polymorphic mutations at the erythrocyte level have been widely studied, however there is no clear statement of the mechanisms used for resistance against the causative agent of malaria. The purpose of this review is to introduce the molecular and biochemical basis of defense mechanisms associated with two of those adaptations: sickle-cell trait and Glucose-6-phosphate Dehydrogenase Deficiency (G6PD). The first one is a hemoglobinopathy while the second one is the most frequent enzymopathy present in humans.

Keywords: Anémie falciforme; Erythrocyte polymorphisms; Glucose-6-phosphate dehydrogenase (G6PD); Glucose-6-phosphate déshydrogénase (G6PD); Mécanismes protecteurs; Oxidative stress; P. falciparum; Polymorphismes érythrocytaires; Protective mechanisms; Sickle cell anemia; Stress oxydatif.