Hepcidin is decreased in TFR2 hemochromatosis.

Abstract

The hepatic peptide hepcidin is the key regulator of iron metabolism in mammals. Recent evidence indicates that certain forms of hereditary hemochromatosis are caused by hepcidin deficiency. Juvenile hemochromatosis is associated with hepcidin or hemojuvelin mutations, and these patients have low or absent urinary hepcidin. Patients with C282Y HFE hemochromatosis also have inappropriately low hepcidin levels for the degree of iron loading. The relationship between the hemochromatosis due to transferrin receptor 2 (TFR2) mutations and hepcidin was unknown. We measured urinary hepcidin levels in 10 patients homozygous for TFR2 mutations, all with increased transferrin saturation. Urinary hepcidin was low or undetectable in 8 of 10 cases irrespective of the previous phlebotomy treatments. The only 2 cases with normal hepcidin values had concomitant inflammatory conditions. Our data indicate that TFR2 is a modulator of hepcidin production in response to iron.

• Authors: Elizabeta Nemeth, Antonella Roetto, Giovanni Garozzo, Tomas Ganz, Clara Camaschella
• Journal: Blood (Blood) Vol. 105 Issue 4 Pg. 1803-6 (Feb 15 2005) ISSN: 0006-4971 [Print] United States
• PMID: 15486069 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Antimicrobial Cationic Peptides
• HAMP protein, human
• Hepcidins
• Receptors, Transferrin
• TFR2 protein, human

Topics

• Adolescent
• Adult
• Aged
• Antimicrobial Cationic Peptides (deficiency, urine)
• Child, Preschool
• Female
• Hemochromatosis (genetics, urine)
• Hepcidins
• Humans
• Male
• Middle Aged
• Mutation
• Receptors, Transferrin (genetics, physiology)