The DOI matches its Crossref record; 99 of the 99 references it cites were found in a registry or an index.
Hereditary Hemochromatosis — A New Look at an Old Disease
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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In the citing paper
“The HFE mutation leads to an impaired formation of hepcidin and thus to an iron deficiency phenotype of MΦs, whereas excessively absorbed iron is stored in parenchymal organs such as the liver, heart, or pancreas.”
From Macrophage defense mechanisms against intracellular bacteria (2015) · cites this paper as [201]
In the citing paper
“Conversely, individuals with insufficient hepcidin production, suffer from iron-overload in the blood, and hepatitis (Pietrangelo, 2004).”
From The Role of Iron Regulation in Immunometabolism and Immune-Related Disease (2019) · cites this paper as Pietrangelo, 2004
In the citing paper
“HFE mutations, especially the homozygous C282Y substitution, result in type I (AKA classical) hereditary hemochromatosis (HH) (Camaschella et al., 2002; Pietrangelo, 2004; Weiss, 2010)”
From Genetic and Dietary Iron Overload Differentially Affect the Course of Salmonella Typhimurium Infection (2017) · cites this paper as Pietrangelo, 2004
In the citing paper
“HH is characterized by reduced serum levels of the antimicrobial peptide Hamp (hepcidin) and increased duodenal absorption of iron via divalent metal transporter 1 (Dmt1) and ferroportin 1 (Fpn1) despite progressive iron overload in parenchymal organs including the liver, pancreas, and heart (Zoller et al., 1999, 2001; Bridle et al., 2003; Pietrangelo, 2004; Bardou-Jacquet et al., 2013).”
From Genetic and Dietary Iron Overload Differentially Affect the Course of Salmonella Typhimurium Infection (2017) · cites this paper as Pietrangelo, 2004
In the citing paper
“Hfe deficiency results in reduced Hamp production and increased serum iron levels (Pietrangelo, 2004).”
From Genetic and Dietary Iron Overload Differentially Affect the Course of Salmonella Typhimurium Infection (2017) · cites this paper as Pietrangelo, 2004
In the citing paper
“The proximal region of the human ferritin H gene was activated by NF-Y and p300 during hemin-induced FLC differentiation, and this proximal region was also responsible for cAMP (80, 194, 248).”
From Intracellular iron transport and storage: from molecular mechanisms to health implications (2008) · cites this paper as [248]
Citations
Cites
A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis
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Hepcidin, a urinary antimicrobial peptide synthesized in the liver
Park, C. H., Valore, E. V., Waring, A. J., & Ganz, T. (2001) · Journal of Biological Chemistry · doi:10.1074/jbc.m008922200 · Cited by 2,168
Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion
den Dunnen, J. T., & Antonarakis, S. E. (2000) · Human Mutation · doi:10.1002/(sici)1098-1004(200001)15:1 · Cited by 1,757
Pigeon, C., Ilyin, G., Courselaud, B., Leroyer, P., Turlin, B., Brissot, P., & Loréal, O. (2001) · Journal of Biological Chemistry · doi:10.1074/jbc.m008923200 · Cited by 1,697
Hepcidin, a key regulator of iron metabolism and mediator of anemia of inflammation
Ganz, T. (2003) · Blood · doi:10.1182/blood-2003-03-0672 · Cited by 1,544
Hepcidin, a putative mediator of anemia of inflammation, is a type II acute-phase protein
Nemeth, E., Valore, E. V., Territo, M., Schiller, G., Lichtenstein, A., & Ganz, T. (2003) · Blood · doi:10.1182/blood-2002-10-3235 · Cited by 1,417
LEAP-1, a novel highly disulfide-bonded human peptide, exhibits antimicrobial activity
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Survival and Causes of Death in Cirrhotic and in Noncirrhotic Patients with Primary Hemochromatosis
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Mutations in HFE2 cause iron overload in chromosome 1q–linked juvenile hemochromatosis
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Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis
Roetto, A., Papanikolaou, G., Politou, M., Alberti, F., Girelli, D., Christakis, J., Loukopoulos, D., & Camaschella, C. (2003) · Nature Genetics · doi:10.1038/ng1053 · Cited by 860
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Cited by
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Hepcidin Regulates Cellular Iron Efflux by Binding to Ferroportin and Inducing Its Internalization
Nemeth, E., Tuttle, M. S., Powelson, J., Vaughn, M. B., Donovan, A., Ward, D. M., Ganz, T., & Kaplan, J. (2004) · Science · doi:10.1126/science.1104742 · Cited by 4,803
Padmanabhan, A., Connelly‐Smith, L. S., Aqui, N. A., Balogun, R. A., Klingel, R., Meyer, E., Pham, H. P., Schneiderman, J., Witt, V., Wu, Y., et al. (2019) · Journal of Clinical Apheresis · doi:10.1002/jca.21705 · Cited by 2,260
Biomarkers of Nutrition for Development—Folate Review
Bailey, L. B., Stover, P. J., McNulty, H., Fenech, M. F., Gregory, J. F., Mills, J. L., Pfeiffer, C. M., Fazili, Z., Zhang, M., Ueland, P. M., et al. (2015) · Journal of Nutrition · doi:10.3945/jn.114.206599 · Cited by 1,170
Papanikolaou, G., & Pantopoulos, K. (2005) · Toxicology and Applied Pharmacology · doi:10.1016/j.taap.2004.06.021 · Cited by 1,070
Macrophage defense mechanisms against intracellular bacteria
Weiss, G., & Schaible, U. E. (2015) · Immunological Reviews · doi:10.1111/imr.12266 · Cited by 989
Metadata
- Authors
- Pietrangelo, A.
- Affiliations
- University of Modena and Reggio Emilia (IT)
- Corresponding author
- 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
- 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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