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Updated: Jul 6, 2026

Electrophoretic Mobility Shift Assay (EMSA) for the Study of RNA-Protein Interactions: The IRE/IRP Example
Published on: December 3, 2014
Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA)
Karin E Finberg1, Matthew M Heeney, Dean R Campagna
1Pathology Service, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.
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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