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nemia

NOT Open Access | CYB5R3(c) (.350C>G) and G6PD A Alleles Modify Severity of Anemia in Malaria and Sickle Cell Disease

July 26, 2020 - 13:26 -- NOT Open Access
Author(s): 
Gordeuk VR, Shah BN, Prchal JT, et al.
Reference: 
Am J Hematol. 2020 Jul 22

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. CYB5R3 encodes cytochrome b5 reductase 3, which converts methemoglobin to hemoglobin through oxidation of NADH. CYB5R3c.350C>G , 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.

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