Article
The CYB5R3c .350C>G and G6PD A alleles modify severity of anemia in malaria and sickle cell disease.
American journal of hematology - 1 Nov 2020
Gordeuk Victor R, Shah Binal N, Zhang Xu, Thuma Philip E, Zulu Stenford, Moono Rodgers, Reading N Scott, Song Jihyun, Zhang Yingze, Nouraie Mehdi, Campbell Andrew, Minniti Caterina P, Rana Sohail R, Darbari Deepika S, Kato Gregory J, Niu Mei, Castro Oswaldo L, Machado Roberto, Gladwin Mark T, Prchal Josef T
Abstract excerpt
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. CYB5R3c.350C > G encoding CYB5R3T117S , the most frequent recognized African-specific polymorphism, does...
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