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.
Overview
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
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
Feder, J. N., Gnirke, A., Thomas, W., Tsuchihashi, Z., Ruddy, D. A., Basava, A., Dormishian, F., Domingo, R., Ellis, M. C., Fullan, A., et al. (1996) · Nature Genetics · doi:10.1038/ng0896-399 · Cited by 3,664
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
Krause, A., Neitz, S., Mägert, H.-J., Schulz, A., Forssmann, W.-G., Schulz-Knappe, P., & Adermann, K. (2000) · FEBS Letters · doi:10.1016/s0014-5793(00)01920-7 · Cited by 1,324
Survival and Causes of Death in Cirrhotic and in Noncirrhotic Patients with Primary Hemochromatosis
Niederau, C., Fischer, R., Sonnenberg, A., Stremmel, W., Trampisch, H. J., & Strohmeyer, G. W. (1985) · New England Journal of Medicine · doi:10.1056/nejm198511143132004 · Cited by 1,063
Mutations in HFE2 cause iron overload in chromosome 1q–linked juvenile hemochromatosis
Papanikolaou, G., Samuels, M. E., Ludwig, E. H., MacDonald, M. L. E., Franchini, P. L., Dubé, M.-P., Andres, L., MacFarlane, J., Sakellaropoulos, N., Politou, M., et al. (2004) · Nature Genetics · doi:10.1038/ng1274 · Cited by 974
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
Research works printed but not linked: 10
- Troisier M, 1871, Bull Soc Anat Paris, 44, 231
- von Recklinghausen FD, 1889, Tageblatt Versammlung Dtsche Naturforscher Arzte Heidelberg, 62, 324
- Sheldon JH. Haemochromatosis. London: Oxford University Press, 1935.
- Simon M, 1975, Nouv Presse Med, 4, 1432
- Simon M, 1987, Am J Hum Genet, 41, 89
- Cook JD, 1973, Am J Pathol, 72, 337
- Smith PM, 1969, Clin Sci, 37, 519
- McLaren GD, 1991, J Lab Clin Med, 117, 390
- Powell LW, 2002, Semin Gastrointest Dis, 13, 80
- Hayashi A, 1993, Am J Hum Genet, 53, 201
Cited by
Sorted by citations
Items 901–991 of 991
Genetic hemochromatosis, one cause, more illnesses
Staňka, B., Maceček, J., & Konvička, P. (2017) · Interní medicína pro praxi · doi:10.36290/int.2017.007
Hepcidin generated by hepatoma cells inhibits iron export from co-cultured THP1 monocytes *
Davis, L., Mortimer, S., & Lynn, B. C. D. (2006)
Herkenhoff, M. E., Pitlovanciv, A. K., & Remualdo, V. R. (2016)
Role of entF Gene in Iron Acquisition by Brucella abortus 2308
Jain, N. (2009) · VTechWorks (Virginia Tech)
Hemochromatosis, Wilson's Disease, Ochronosis, Fabry Disease, and Multicentric Reticulohistiocytosis
Weissman, B. N. (2009) · Elsevier eBooks · doi:10.1016/b978-0-323-04177-5.00028-8
The spectrum of inheritable cardiac disease in sudden cardiac death: investigation and pathology
Goddard, M. J. (2018) · Diagnostic histopathology · doi:10.1016/j.mpdhp.2018.08.002
Çelik, V. D., Kılıç, B. O., Akışın, Y. A., Tükün, F. A., & Akar, N. (2018) · Egyptian Journal of Medical Human Genetics · doi:10.1016/j.ejmhg.2018.06.001
RESEARCH ARTICLE Integrative Cardiovascular Physiology and Pathophysiology
Ribeiro, J. C. (2018)
Transplantation for Hematological Disorders
Wong, D. J. L., Tap, W. D., & Marder, V. J. (2015) · Elsevier eBooks · doi:10.1016/b978-1-4557-0268-8.00019-1
Juvenile hemochromatosis with multi-organ involvement diagnosed at autopsy
Mantilla, J. C., & Amaya-Mujica, J. (2018) · Revista Española de Patología · doi:10.1016/j.patol.2018.08.005
Chapter 70A – Cirrhosis and portal hypertension: Pathologic aspects
Pai, R. K., & Brunt, E. M. (2012) · Blumgart's Surgery of the Liver, Pancreas and Biliary Tract (Fifth Edition)
Advances in iron homeostasis and ferromagnetic nanoparticles
Wang, J., An, P., Wang, H., Wu, Q., Fang, X., Min, J., & Wang, F. (2018) · Chinese Science Bulletin (Chinese Version) · doi:10.1360/n972018-00707
PERFIL ANTROPOMÉTRICO, ESTADO NUTRICIONAL E NÍVEL SÉRICO DE FERRO EM ASSENTADOS DE ITUIUTABA-MG
Zanato, L. N., de Oliveira, K. R., & Calábria, L. K. (2018) · Biológicas & Saúde · doi:10.25242/886882720181379
Rheumatologic Manifestations of Hepatobiliary Diseases
West, S. G. (2010) · Elsevier eBooks · doi:10.1016/b978-0-323-06397-5.00023-x
Management of Recurrent Non-Viral Conditions
Neuberger, J. (2006) · Elsevier eBooks · doi:10.1016/b978-1-4160-3258-8.50058-9
Hereditäre Stoff-wechselstörungen
Jung, M. (2006) · Elsevier eBooks · doi:10.1016/b978-343724160-4.50008-7
Adams, P. C. (2011) · Wiley eBooks · doi:10.1002/9781444341294.ch26
Middle-Aged Man With Fatigue, Sexual Dysfunction, and Joint Pain
Rubin, R. S. (2005)
Hereditary haemochromatosis: the genes and the disease
Corradini, E., Ferrara, F., & Pietrangelo, A. (2007) · Springer eBooks · doi:10.1007/1-4020-5224-3_18
Self-citationrole of brain iron loading in redox-epigenetic regulation of psychiatrics-like behavior
Ye, X. (2018) · Digital Repository Service (Northeastern University) · doi:10.17760/d20285816
Erkrankungen des Gastrointestinalsystems
(2009) · Elsevier eBooks · doi:10.1016/b978-3-437-42831-9.10015-4
Adams, P. C. (2006) · Elsevier eBooks · doi:10.1016/b978-1-4160-3258-8.50072-3
Liver Stiffness in Patients with Hereditary Hemochromatosis and Secondary Iron Overload
Castiella, A., & Zapata, E. (2020) · Springer eBooks · doi:10.1007/978-3-030-40542-7_19
ERKRANKUNGEN DER VERDAUUNGSORGANE
Jung, N., Mayet, W.-J., Mertens, P. R., (federführend), J. M., Müller, O.-A., Pfeifer, M., Schellinger, P. D., Weiss, N., & Wendtner, C. (2020) · Elsevier eBooks · doi:10.1016/b978-3-437-06282-7.50008-5
Asociación entre concentraciones de ferritina, CRP, sTFR Y HbA1c en sujetos con y sin DM2.
Ibarra, A. A. M., & Ponce, A. M. G. (2020) · RESPYN Revista de Salud Pública y Nutrición · doi:10.29105/respyn19.3-2
DOUTOR, EU PRECISO FAZER FLEBOTOMIA?
Mendes, L. S. C., Martins, J. D. C. S., & Neto, A. S. (2016) · Brasília Médica · doi:10.5935/2236-5117.2016v53a07
Impact of the UPR on the expression of relevant genes for cellular iron metabolism
Oliveira, S. J. (2011)
Niederau, C. M. (2008) · Die Gastroenterologie · doi:10.1007/s11377-008-0146-5
Gilles, W., & Stremmel, W. (2009) · Der Kardiologe · doi:10.1007/s12181-008-0125-6
Cunnane, G. (2013) · Elsevier eBooks · doi:10.1016/b978-1-4377-1738-9.00118-3
Patterson, J. W., Kwock, J. M., Flowers, R. H., Guffey, D. J., Pruitt, L., Stowman, A. M., & David, B. A. M. (2021) · Springer eBooks · doi:10.1007/978-3-319-53808-2_48
Pietrangelo, A. (2007) · Wiley eBooks · doi:10.1002/9780470691861.ch16b
Self-citationState-of-the-Art Lecture II: Hereditary haemochromatosis: the genes and the disease
Pietrangelo, A. (2007) · Springer eBooks · doi:10.1007/978-1-4020-6393-0_7
Self-citationSchuff‐Werner, P. (2010) · Springer eBooks · doi:10.1007/978-3-642-12765-6_9
Pietrangelo, A. (2012) · Wiley eBooks · doi:10.1002/9781118321386.ch90
Self-citationAetiology, pathogenesis and treatment of haemochromatosis
Powell, L. W. (2007) · Springer eBooks · doi:10.1007/1-4020-2916-0_12
(2012) · Elsevier eBooks · doi:10.1016/b978-1-4557-0738-6.00013-9
Gressner, A. M., & Arndt, T. (2013) · Springer eBooks · doi:10.1007/978-3-642-12921-6_8
Hepatologische Labordiagnostik
Halwachs‐Baumann, G. (2011) · Springer eBooks · doi:10.1007/978-3-7091-0203-9_4
Gressner, A. M., & Arndt, T. (2007) · Springer eBooks · doi:10.1007/978-3-540-49520-8_8
DeRusso, P. A. (2008) · Elsevier eBooks · doi:10.1016/b978-0-323-03280-3.50037-5
Diseases of Mineral Metabolism
Szeimies, R. (2009) · Springer eBooks · doi:10.1007/978-3-540-29316-3_90
Denk, G., Beuers, U. H., Bogner, J. R., & Fischereder, M. (2008) · Medical radiology · doi:10.1007/978-3-540-49831-5_16
Selected Organ System Abnormalities
(2007) · Elsevier eBooks · doi:10.1016/b978-0-323-03671-9.50012-5
Massarotti, E. M. (2011) · Elsevier eBooks · doi:10.1016/b978-0-323-06551-1.00192-5
Petrides, P. E. (2007) · Springer-Lehrbuch · doi:10.1007/978-3-540-32681-6_22
Maurya, G. K., & Singh, R. (2017) · Springer eBooks · doi:10.1007/978-3-319-47829-6_2-1
Massarotti, E. M. (2015) · Elsevier eBooks · doi:10.1016/b978-0-323-09138-1.00196-0
Bacon, B. R., & Britton, R. S. (2010) · Elsevier eBooks · doi:10.1016/b978-1-4160-6189-2.00074-3
Disturbances of Copper and Iron Metabolism
Lefkowitch, J. H. (2010) · Elsevier eBooks · doi:10.1016/b978-0-7020-3410-7.00020-4
Cunnane, G. (2009) · Elsevier eBooks · doi:10.1016/b978-1-4160-3285-4.10108-1
(2016) · Elsevier eBooks · doi:10.1016/b978-0-323-26011-4.09970-8
Thuret, I., Fossat, C., & Perrimond, H. (2006) · EMC - Pediatría · doi:10.1016/s1245-1789(06)45254-9
(2006) · Springer eBooks · doi:10.1007/1-4020-3840-2_35
Molecular dynamics of iron transport in iron disorders
Chang, J. (2019) · doi:10.17760/d20321689
Hepatologische Labordiagnostik
(2006) · Springer eBooks · doi:10.1007/3-211-35112-4_4
Maurya, G. K., & Singh, R. (2022) · Springer eBooks · doi:10.1007/978-3-319-55065-7_2
Unmasking hereditary hemochromatosis with CFTR modulator therapy
Wong, R. J., Roberts, A., & Condren, M. E. (2022) · Journal of Clinical Images and Medical Case Reports · doi:10.52768/2766-7820/1716
Hemocromatosis hereditaria y la importancia de las mutaciones en el gen HFE
Campos, X., Ribera-Pérez, M., Malagón-Corominas, C., Aharchi-Amghar, J., & Claver-Belver, N. (2023) · Medicina y Laboratorio · doi:10.36384/01232576.689
Cheung, A., & Sánchez, W. (2024) · doi:10.1093/med/9780197679753.003.0030
Potential Correlation between Kienböck’s Disease and Hereditary Hemochromatosis: A Case Report
Top, A. C. R., Vanmierlo, B., & Decramer, A. (2024) · Journal of Orthopaedic Case Reports · doi:10.13107/jocr.2024.v14.i08.4626
Hämochromatose – zu viel Eisen
Pammer, L. M., & Schäfer, B. (2024) · DMW - Deutsche Medizinische Wochenschrift · doi:10.1055/a-2279-8279
Ota, S. (2024) · International Journal of Cardiology · doi:10.1016/j.ijcard.2024.132701
Zabihi, S., Rahimian, E., Khademi, S., Sharma, S., Sethi, S. K., Gharabaghi, S., Asif, A. A., Haacke, E. M., Jog, M., & Mohammadi, A. (2024) · IEEE International Conference on Image Processing Workshops (ICIPW) · doi:10.1109/icipcw64161.2024.10769134
Improving Access to Expanded Genetic Carrier Screening Through Multimodal Interventions
Meiss, L. N., Pathy, S. R., & Baxley, S. E. (2025) · Journal of Women s Health · doi:10.1089/jwh.2024.0894
Campos, P. D. M., Toreli, A. C. M., de Albuquerque, D. M., & Costa, F. F. (2025) · Hematology Transfusion and Cell Therapy · doi:10.1016/j.htct.2025.103846
Infiltrative Cardiomyopathies: Pathophysiology and Implications for Heart Transplantation
Kwon, Y. I. C., Bashian, E. E., Bashian, E. J., Chang, J. H., Robila, V., Shah, K. B., Makkiya, M., & Hashmi, Z. A. (2025) · Cardiology and cardiovascular medicine. · doi:10.5772/intechopen.1012594
Phenocopies of Hypertrophic Cardiomyopathy
Pan, S., ADLER, E. D., & Wheeler, M. T. (2025) · Springer eBooks · doi:10.1007/978-3-031-99282-7_10
Stremmel, W. (2025) · Elsevier eBooks · doi:10.1016/b978-3-437-21164-5.00031-3
HEMOCROMATOSE HEREDITÁRIA ASSOCIADA AO GENE HFE: Relato de Caso
Tavares, A., & Henrique, P. (2018) · Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT) · doi:10.25746/ruiips.3.2.14359
Hepсidin regulation of adaptive immune cell functions
Orlova, E. G., Gorbunova, O. L., & Loginova, N. P. (2025) · Perm Medical Journal · doi:10.17816/pmj4265-19
Wu, Q., Zhou, J., Wang, D., Xue, S., Li, L., Wu, L., Yan, J., & Niu, X. (2026) · Natural Products and Bioprospecting · doi:10.1007/s13659-026-00590-7 · Cited by 2
de Carvalho, A. G. C. (2010) · theses.fr (ABES) · doi:10.70675/3eef4184z1db5z47f0z8097z1a1424d1940b
Surcharges en fer rares d’origine génétique : caractérisation clinique, fonctionnelle, et biologique
Bardou‐Jacquet, E. (2013) · theses.fr (ABES) · doi:10.70675/99eb557fz5edcz4fdezbd26z84ca08eab5aa
Mutation HFE et performance physique
Djemai, H. (2018) · theses.fr (ABES) · doi:10.70675/d4e9c367zc7faz4ffbzb60cz3664ac9214ca
Bories, G. F. P. (2011) · theses.fr (ABES) · doi:10.70675/81757398zf42fz45dcz8424z3f14e050bfb4
Rueda, A. G., Moreno, A. P., & Bermúdez, I. A. B. (2026) · Archivos de Bronconeumología · doi:10.1016/j.arbres.2026.04.002
Hotta, V. T., Costa, I. B. S. D. S., Felix, R. C. M., Otto, M. E. B., Romano, M. M. D., Santorio, N. C., Brandão, S. C. S., Rassi, D. D. C., Lianza, A. C., dos Santos, S. N., et al. (2026) · Arquivos Brasileiros de Cardiologia · doi:10.36660/abc.20260221
Red Meat in Human Evolution, Health, and Disease: From A Blessing to A Curse?
Jaco, J., Banda, K., Varki, A. P., & Gagneux, P. (2026) · The Quarterly Review of Biology · doi:10.1086/741185 · Cited by 1
Khurram, N. A., Matyja, T. M., Varshney, N., Alexander, M., Barwad, A., Sharma, C. B., Davis, K., Celaj, S., Furlan, A., & Oshima, K. (2026) · Research Square · doi:10.21203/rs.3.rs-9666883/v1
Position Statement on Multimodal Cardiac Imaging in Patients with Systemic Diseases – 2026
Hotta, V. T., Costa, I. B. S. D. S., Felix, R. C. M., Otto, M. E. B., Romano, M. M. D., Santorio, N. C., Brandão, S. C. S., Rassi, D. D. C., Lianza, A. C., dos Santos, S. N., et al. (2026) · Arquivos Brasileiros de Cardiologia · doi:10.36660/abc.20260221i
Saha, P., Ashraf, M., & Rana, M. M. (2026) · Research Square · doi:10.21203/rs.3.rs-10209641/v1
Fucci, R., Iserani, A., Oliva, I., Badolato, L., Angelis, D. D., Cianchi, I., Rizzello, F., Evangelisti, P., Gensini, F., Falcone, P., et al. (2026) · Journal of Assisted Reproduction and Genetics · doi:10.1007/s10815-026-04066-y
Verkade, H. J., Bodewes, F. A. J. A., Houwen, R. H. J., de Vries, R. A., van Hoek, B., & Visser, G. (2009) · Bohn Stafleu van Loghum eBooks · doi:10.1007/978-90-313-7437-3_14
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
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
