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.
- Finberg, KE; Heeney, MM; Campagna, DR; Aydinok, Y; Pearson, HA; Hartman, KR; Mayo, MM; Samuel, SM; Strouse, JJ; Markianos, K; Andrews, NC; Fleming, MD
- May 2008
Volume / Issue
- 40 / 5
Start / End Page
- 569 - 571
Pubmed Central ID
Electronic International Standard Serial Number (EISSN)
Digital Object Identifier (DOI)
- United States