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

Muriuki, JM; Mentzer, AJ; Band, G; Gilchrist, JJ; Carstensen, T; Lule, SA; Goheen, MM; ... Atkinson, SH; + view all (2019) The ferroportin Q248H mutation protects from anemia, but not malaria or bacteremia. Science Advances , 5 (9) 10.1126/sciadv.aaw0109. Green open access

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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.

Type: Article
Title: The ferroportin Q248H mutation protects from anemia, but not malaria or bacteremia
Open access status: An open access version is available from UCL Discovery
DOI: 10.1126/sciadv.aaw0109
Publisher version: http://dx.doi.org/10.1126/sciadv.aaw0109
Language: English
Additional information: Copyright © 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.
Keywords: IRON OVERLOAD, AFRICAN-AMERICANS, SERUM FERRITIN, HEMOCHROMATOSIS, CELL, SUSCEPTIBILITY, IMMUNIZATION, POLYMORPHISM, FALCIPARUM, RESISTANCE
UCL classification: UCL
UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute for Global Health
URI: https://discovery.ucl.ac.uk/id/eprint/10112201
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