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

Sci Adv. 2019 Sep 4;5(9):eaaw0109. doi: 10.1126/sciadv.aaw0109. eCollection 2019 Sep.

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.

Publication types

  • Clinical Trial
  • Multicenter Study
  • Research Support, Non-U.S. Gov't

MeSH terms

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

Substances

  • Cation Transport Proteins
  • metal transporting protein 1
  • Iron