Hepcidin in Iron Overload Disorders

Overview

Journal Blood

Publisher Elsevier

Specialty Hematology

Date 2005 Jan 27

PMID 15671438

Citations 136

Authors

George Papanikolaou

Michalis Tzilianos

John I Christakis

Dionisios Bogdanos

Konstantina Tsimirika

Julie MacFarlane

Y Paul Goldberg

Nikos Sakellaropoulos

Tomas Ganz

Elizabeta Nemeth

Affiliations

Soon will be listed here.

Abstract

Hepcidin is the principal regulator of iron absorption in humans. The peptide inhibits cellular iron efflux by binding to the iron export channel ferroportin and inducing its internalization and degradation. Either hepcidin deficiency or alterations in its target, ferroportin, would be expected to result in dysregulated iron absorption, tissue maldistribution of iron, and iron overload. Indeed, hepcidin deficiency has been reported in hereditary hemochromatosis and attributed to mutations in HFE, transferrin receptor 2, hemojuvelin, and the hepcidin gene itself. We measured urinary hepcidin in patients with other genetic causes of iron overload. Hepcidin was found to be suppressed in patients with thalassemia syndromes and congenital dyserythropoietic anemia type 1 and was undetectable in patients with juvenile hemochromatosis with HAMP mutations. Of interest, urine hepcidin levels were significantly elevated in 2 patients with hemochromatosis type 4. These findings extend the spectrum of iron disorders with hepcidin deficiency and underscore the critical importance of the hepcidin-ferroportin interaction in iron homeostasis.

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