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The ferroportin Q248H mutation protects from anemia, but not malaria or bacteremia.

Published version
Peer-reviewed

Type

Article

Change log

Abstract

Iron acquisition is critical for life. Ferroportin (FPN) exports iron from mature erythrocytes, and deletion of the Fpn gene results in hemolytic anemia and increased fatality in malaria-infected mice. The FPN Q248H mutation (glutamine to histidine at position 248) renders FPN partially resistant to hepcidin-induced degradation and was associated with protection from malaria in human studies of limited size. Using data from cohorts including over 18,000 African children, we show that the Q248H mutation is associated with modest protection against anemia, hemolysis, and iron deficiency, but we found little evidence of protection against severe malaria or bacteremia. We additionally observed no excess Plasmodium growth in Q248H erythrocytes ex vivo, nor evidence of selection driven by malaria exposure, suggesting that the Q248H mutation does not protect from malaria and is unlikely to deprive malaria parasites of iron essential for their growth.

Description

Keywords

Amino Acid Substitution, Anemia, Bacteremia, Cation Transport Proteins, Erythrocytes, Female, Humans, Infant, Infant, Newborn, Iron, Iron Deficiencies, Malaria, Male, Mutation, Missense

Journal Title

Sci Adv

Conference Name

Journal ISSN

2375-2548
2375-2548

Volume Title

5

Publisher

American Association for the Advancement of Science (AAAS)
Sponsorship
Medical Research Council (G0901213)
Medical Research Council (MR/K013491/1)
Wellcome Trust (090770/Z/09/Z)
Wellcome Trust (107743/Z/15/Z)
Medical Research Council (G0901213/1)