2. Academic Validation
  3. Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA)

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

  • Nat Genet. 2008 May;40(5):569-71. doi: 10.1038/ng.130.
Karin E Finberg 1,  Matthew M Heeney,  Dean R Campagna,  Yeşim Aydinok,  Howard A Pearson,  Kip R Hartman,  Mary M Mayo,  Stewart M Samuel,  John J Strouse,  Kyriacos Markianos,  Nancy C Andrews,  Mark D Fleming
Affiliations

Affiliation

  • 1 Pathology Service, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.
PMID: 18408718 DOI: 10.1038/ng.130
Abstract

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.

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