Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA).

Journal Article (Journal Article)

Iron deficiency is usually attributed to chronic blood loss or inadequate dietary intake. Here, we show that iron deficiency anemia refractory to oral iron therapy can be caused by germline mutations in TMPRSS6, which encodes a type II transmembrane serine protease produced by the liver that regulates the expression of the systemic iron regulatory hormone hepcidin. These findings demonstrate that TMPRSS6 is essential for normal systemic iron homeostasis in humans.

Full Text

Duke Authors

Cited Authors

  • Finberg, KE; Heeney, MM; Campagna, DR; Aydinok, Y; Pearson, HA; Hartman, KR; Mayo, MM; Samuel, SM; Strouse, JJ; Markianos, K; Andrews, NC; Fleming, MD

Published Date

  • May 2008

Published In

Volume / Issue

  • 40 / 5

Start / End Page

  • 569 - 571

PubMed ID

  • 18408718

Pubmed Central ID

  • PMC3104019

Electronic International Standard Serial Number (EISSN)

  • 1546-1718

Digital Object Identifier (DOI)

  • 10.1038/ng.130


  • eng

Conference Location

  • United States