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Article

Expression of hepcidin and other iron-related genes in type 3 hemochromatosis due to a novel mutation in transferrin receptor-2.

Haematologica - 1 Feb 2009

Pelucchi Sara, Mariani Raffaella, Trombini Paola, Coletti Sabina, Pozzi Matteo, Paolini Valentina, Barisani Donatella, Piperno Alberto

Abstract excerpt

Transferrin receptor-2 (TFR2) regulates hepatic hepcidin secretion and when mutated causes type-3 hemochromatosis. No functional study is available in humans. We studied a 47 year-old woman with hemochromatosis. TFR2 DNA and its hepatic transcript were directly sequenced. Hepatic expression of hepcidin and other iron-related genes were measured by qRT-PCR. Urinary hepcidin was measured at baseline and after an...

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Source

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Identifiers

PMID: 19144662
DOI: 10.3324/haematol.13576
PMCID: PMC2635389

Genes

TFR2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Expression of hepcidin and other iron-related genes in type 3 hemochromatosis due to a novel mutation in transferrin receptor-2.PMID 19144662Read ↗

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