Cited by 992Iron Metabolism and DisordersNeurological diseases and metabolismGenetic factors in colorectal cancer

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Hereditary Hemochromatosis — A New Look at an Old Disease

Pietrangelo, Antonello·2004·New England Journal of Medicine

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Abstract

For many years, hereditary hemochromatosis was regarded as a clinically and genetically unique entity marked by a classic presentation consisting of diabetes, bronze skin pigmentation, and cirrhosis. In 1996, identification of “the hemochromatosis gene,” HFE, was reported; since then, several other iron-metabolism genes have also been identified. This article reviews the current understanding and management of hereditary iron-overload disorders.

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Authors: Pietrangelo, A.
Affiliations: University of Modena and Reggio Emilia (IT)
Corresponding author: Pietrangelo, Antonello
ORCID: Pietrangelo, Antonello
Venue: New England Journal of Medicine
Publisher: Massachusetts Medical Society
Published: 2004-06-03
Volume: 350
Issue: 23
Pages: 2383-2397
ISSN: 0028-4793 (ISSN-L)
1533-4406
DOI: 10.1056/nejmra031573
OpenAlex: W2168051647
Cited by: 992
References: 97
Citations by year: 2026: 12 · 2025: 11 · 2024: 16 · 2023: 17 · 2022: 22 · 2021: 18 · 2020: 21 · 2019: 21 · 2018: 38 · 2017: 38 · 2016: 37 · 2015: 42 · 2014: 34 · 2013: 42 · 2012: 41
FWCI: 11.74
Type: journal article
Language: en
Open access: closed
Locations: New England Journal of Medicine (publishedVersion)
PubMed (publishedVersion)
IRIS UNIMORE (University of Modena and Reggio Emilia) (submittedVersion)
Topics: Health Sciences › Medicine › Hematology › Iron Metabolism and Disorders
Life Sciences › Neuroscience › Neurology › Neurological diseases and metabolism
Health Sciences › Medicine › Pathology and Forensic Medicine › Genetic factors in colorectal cancer
Keywords: hereditary hemochromatosis, HFE gene, iron overload, iron metabolism genes, disease management, diabetes mellitus, liver cirrhosis
MeSH terms: Hemochromatosis Protein, Genotype, Hemochromatosis, Homeostasis, Humans, Iron, Membrane Proteins, Mutation, Phenotype, Receptors, Transferrin, Histocompatibility Antigens Class I, Iron Overload, Antimicrobial Cationic Peptides, Hepcidins

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Hereditary Hemochromatosis — A New Look at an Old Disease

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