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Blood, 15 February 2005, Vol. 105, No. 4, pp. 1803-1806.
Prepublished online as a Blood First Edition Paper on October 14, 2004; DOI 10.1182/blood-2004-08-3042.
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Submitted August 5, 2004
Accepted October 13, 2004
Hepcidin is decreased in TFR2-Hemochromatosis
Elizabeta Nemeth, Antonella Roetto, Giovanni Garozzo, Tomas Ganz, and Clara Camaschella*
Department of Medicine, David Geffen School of Medicine, University of California (UCLA), Los Angeles, California, USA
Department of Clinical and Biological Sciences, University of Turin, Orbassano, Turin, Italy
Servizio di Immunoematologia e Medicina Trasfusionale, Civile-Maria Paterno Arezzo Hospital, Ragusa, Italy
* Corresponding author; email: clara.camaschella{at}unito.it.
The hepatic antimicrobial 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 levels. Patients with C282Y HFE hemochromatosis also have hepcidin levels inappropriate to the degree of iron loading. The relationship between the hemochromatosis due to TFR2 mutations and hepcidin was unknown.
We measured urinary hepcidin levels in 10 patients homozygous for different TFR2 mutations, all with increased transferrin saturation. Urinary hepcidin was low or undetectable in 8/10 cases, irrespective of previous phlebotomy treatments or serum ferritin levels. 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.
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