The CYB5R3^{c .350C>G} and G6PD A alleles modify severity of anemia in malaria and sickle cell disease.

ABSTRACT: Genetic modifiers of anemia in Plasmodium falciparum infection and sickle cell disease (SCD) are not fully known. Both conditions are associated with oxidative stress, hemolysis and anemia. The CYB5R3 gene encodes cytochrome b5 reductase 3, which converts methemoglobin to hemoglobin through oxidation of NADH. CYB5R3^{c.350C > G} encoding CYB5R3^T117S , the most frequent recognized African-specific polymorphism, does not have known functional significance, but its high allele frequency (23% in African Americans) suggests a selection advantage. Glucose-6-phosphate dehydrogenase (G6PD) is essential for protection from oxidants; its African-polymorphic X-linked A+ and A- alleles, and other variants with reduced activity, coincide with endemic malaria distribution, suggesting

SUBMITTER: Gordeuk VR 

PROVIDER: S-EPMC8095369 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature