The ferroportin Q248H mutation protects from anemia, but not malaria or bacteremia
File(s)Muriuki et al Science Advances 2019.pdf (4.25 MB)
Published version
Author(s)
Type
Journal Article
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.
Date Issued
2019-09-04
Date Acceptance
2019-08-06
Citation
Science Advances, 2019, 5 (9)
ISSN
2375-2548
Publisher
American Association for the Advancement of Science
Journal / Book Title
Science Advances
Volume
5
Issue
9
Copyright Statement
© 2019 The Authors, some rights reserved; exclusive licensee American Association for the Advancement of Science. No claim to original U.S. Government Works. Distributed under a Creative Commons Attribution License 4.0 (CC BY). This is an open-access article distributed under the terms of the Creative Commons Attribution license, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Sponsor
Wellcome Trust
Wellcome Trust
Identifier
https://www.ncbi.nlm.nih.gov/pubmed/31517041
PII: aaw0109
Grant Number
091758/B/10/Z
202800/Z/16/Z
Publication Status
Published
Coverage Spatial
United States
Article Number
ARTN eaaw0109