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

• Published in: American journal of hematology Vol. 95; no. 11; pp. 1269 - 1279
• Main Authors: 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.
• Format: Journal Article
• Language: English
• Published: United States 01.11.2020
• Subjects: Alleles; Anemia, Sickle Cell - genetics; Anemia, Sickle Cell - metabolism; Anemia, Sickle Cell - parasitology; Child, Preschool; Cytochrome-B Reductase - genetics; Cytochrome-B Reductase - metabolism; Female; Glucosephosphate Dehydrogenase - genetics; Glucosephosphate Dehydrogenase - metabolism; Humans; Infant; Malaria, Falciparum - genetics; Malaria, Falciparum - metabolism; Male; Plasmodium falciparum - metabolism; Point Mutation; Severity of Illness Index; Zambia; Zambia

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 oxidatio...