Publications

Authors:

Girelli, Domenico; Trombini, P; Busti, Fabiana; Campostrini, Natascia; Sandri, Marco; Pelucchi, S; Westerman, M; Ganz, T; Nemeth, E; Piperno, A; Camaschella, C.

Title:

A time course of hepcidin response to iron challenge in patients with HFE and TFR2 hemochromatosis

Year:

2011

Type of item:

Articolo in Rivista

Tipologia ANVUR:

Articolo su rivista

Language:

Inglese

Format:

A Stampa

Referee:

Sì

Name of journal:

Haematologica

ISSN of journal:

0390-6078

N° Volume:

96

Number or Folder:

4

Page numbers:

500-506

Keyword:

hemochromatosis; hepcidin; iron challenge; phlebotomy; transferrin receptor 2

Short description of contents:

Background: Inadequate hepcidin production leads to iron overload in nearly all types of hemochromatosis. We explored the acute response of hepcidin to iron challenge in 25 patients with HFE-hemochromatosis, in two with TFR2-hemochromatosis and in 13 controls. Sixteen patients (10 C282Y/C282Y homozygotes, 6 C282Y/H63D compound heterozygotes) had increased iron stores, while nine (6 C282Y/C282Y homozygotes, 3 C282Y/H63D compound heterozygotes) were studied after phlebotomy-induced normalization of iron stores. Design and methods: We analyzed serum iron, transferrin saturation, and serum hepcidin by both enzyme-linked immunosorbent assay and mass-spectrometry at baseline, and 4, 8, 12 and 24 hours after a single 65-mg dose of oral iron. Results: Serum iron and transferrin saturation significantly increased at 4 hours and returned to baseline values at 8-12 hours in all groups, except in the iron-normalized patients who showed the highest and longest increase of both parameters. The level of hepcidin increased significantly at 4 hours and returned to baseline at 24 hours in controls and in the C282Y/H63D compound heterozygotes at diagnosis. The hepcidin response was smaller in C282Y-homozygotes than in controls, barely detectable in the patients with iron-depleted HFE-hemochromatosis and absent in those with TFR2-hemochromatosis. Conclusions Our results are consistent with a scenario in which TFR2 plays a prominent and HFE a contributory role in the hepcidin response to a dose of oral iron. In iron-normalized patients with HFE hemochromatosis, both the low baseline hepcidin level and the weak response to iron contribute to hyperabsorption of iron.

Product ID:

136565

Handle IRIS:

11562/1115470

Deposited On:

December 22, 2010

Last Modified:

December 13, 2023

Bibliographic citation:

Girelli, Domenico; Trombini, P; Busti, Fabiana; Campostrini, Natascia; Sandri, Marco; Pelucchi, S; Westerman, M; Ganz, T; Nemeth, E; Piperno, A; Camaschella, C., A time course of hepcidin response to iron challenge in patients with HFE and TFR2 hemochromatosis «Haematologica» , vol. 96 , n. 4 , 2011 , pp. 500-506

Consulta la scheda completa presente nel repository istituzionale della Ricerca di Ateneo