Hereditary Hemochromatosis — A New Look at an Old Disease

Pietrangelo, Antonello

doi:10.1056/nejmra031573

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

Hereditary Hemochromatosis — A New Look at an Old Disease

Pietrangelo, Antonello·2004·New England Journal of Medicine

DOI 10.1056/nejmra031573

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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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The HFE mutation leads to impaired formation of hepcidin and thus an iron deficiency phenotype of macrophages, whereas excessively absorbed iron is stored in parenchymal organs such as liver, heart, or pancreas.
“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]
Individuals with insufficient hepcidin production suffer from iron-overload in the blood and hepatitis.
“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
HFE mutations, especially the homozygous C282Y substitution, result in type I hereditary hemochromatosis.
“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
HH is characterized by reduced serum Hamp and increased duodenal absorption of iron via Dmt1 and Fpn1 despite progressive iron overload in parenchymal organs including liver, pancreas, and heart.
“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
Hfe deficiency results in reduced Hamp production and increased serum iron levels.
“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

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Hemochromatosis-associated morbidity in the United States: An analysis of the National Hospital Discharge Survey, 1979–1997
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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 · see citing works
Guidelines on the Use of Therapeutic Apheresis in Clinical Practice – Evidence‐Based Approach from the Writing Committee of the American Society for Apheresis: The Eighth Special Issue
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 2,245 · see citing works
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 1,147 · see citing works
Iron metabolism and toxicity
Papanikolaou, G., & Pantopoulos, K. (2005) · Toxicology and Applied Pharmacology · doi:10.1016/j.taap.2004.06.021 · Cited by 1,070 · see citing works
Macrophage defense mechanisms against intracellular bacteria
Weiss, G., & Schaible, U. E. (2015) · Immunological Reviews · doi:10.1111/imr.12266 · Cited by 989 · see citing works
Iron and microbial infection
Schaible, U. E., & Kaufmann, S. H. E. (2004) · Nature Reviews Microbiology · doi:10.1038/nrmicro1046 · Cited by 945 · see citing works
Guidelines on the Use of Therapeutic Apheresis in Clinical Practice–Evidence‐Based Approach from the Writing Committee of the American Society for Apheresis: The Seventh Special Issue
Schwartz, J. E., Padmanabhan, A., Aqui, N. A., Balogun, R. A., Connelly‐Smith, L. S., Delaney, M., Dunbar, N. M., Witt, V., Wu, Y., & Shaz, B. H. (2016) · Journal of Clinical Apheresis · doi:10.1002/jca.21470 · Cited by 793 · see citing works
Hemochromatosis and Iron-Overload Screening in a Racially Diverse Population
Adams, P. C., Reboussin, D. M., Barton, J. C., McLaren, C. E., Eckfeldt, J. H., McLaren, G. D., Dawkins, F. W., Acton, R. T., Harris, E. L., Gordeuk, V. R., et al. (2005) · New England Journal of Medicine · doi:10.1056/nejmoa041534 · Cited by 770 · see citing works
Iron-Overload–Related Disease inHFEHereditary Hemochromatosis
Allen, K. J., Gurrin, L. C., Constantine, C. C., Osborne, N. J., Delatycki, M. B., Nicoll, A., McLaren, C. E., Bahlo, M., Nisselle, A. E., Vulpe, C. D., et al. (2008) · New England Journal of Medicine · doi:10.1056/nejmoa073286 · Cited by 730 · see citing works
Guidelines on the Use of Therapeutic Apheresis in Clinical Practice – Evidence‐Based Approach from the Writing Committee of the American Society for Apheresis: The Ninth Special Issue
Connelly‐Smith, L. S., Alquist, C. R., Aqui, N. A., Hofmann, J. C., Klingel, R., Onwuemene, O. A., Patriquin, C. J., Pham, H. P., Sanchez, A. P., Schneiderman, J., et al. (2023) · Journal of Clinical Apheresis · doi:10.1002/jca.22043 · Cited by 718 · see citing works
Body iron metabolism and pathophysiology of iron overload
Kohgo, Y., Ikuta, K., Ohtake, T., Torimoto, Y., & Kato, J. (2008) · International Journal of Hematology · doi:10.1007/s12185-008-0120-5 · Cited by 616 · see citing works
Hereditary Hemochromatosis: Pathogenesis, Diagnosis, and Treatment
Pietrangelo, A. (2010) · Gastroenterology · doi:10.1053/j.gastro.2010.06.013 · Cited by 615 · see citing works
Self-citation
Guidelines on the Use of Therapeutic Apheresis in Clinical Practice—Evidence‐Based Approach from the Writing Committee of the American Society for Apheresis: The Sixth Special Issue
Schwartz, J. E., Winters, J. L., Padmanabhan, A., Balogun, R. A., Delaney, M., Linenberger, M. L., Szczepiorkowski, Z. M., Williams, M. E., Wu, Y., & Shaz, B. H. (2013) · Journal of Clinical Apheresis · doi:10.1002/jca.21276 · Cited by 606 · see citing works
In Situ Imaging of Metals in Cells and Tissues
McRae, R. L., Bagchi, P., Sumalekshmy, S., & Fahrni, C. J. (2009) · Chemical Reviews · doi:10.1021/cr900223a · Cited by 566 · see citing works
Guidelines on the use of therapeutic apheresis in clinical practice—Evidence‐based approach from the apheresis applications committee of the American society for apheresis
Szczepiorkowski, Z. M., Bandarenko, N., Kim, H. C., Linenberger, M. L., Marques, M. B., Sarode, R., Schwartz, J. E., Shaz, B. H., Weinstein, R. S., Wirk, A., et al. (2007) · Journal of Clinical Apheresis · doi:10.1002/jca.20129 · Cited by 546 · see citing works
2011 Consensus statement on endomyocardial biopsy from the Association for European Cardiovascular Pathology and the Society for Cardiovascular Pathology
Leone, O., Veinot, J. P., Angelini, A., Baandrup, U. T., Basso, C., Berry, G. J., Bruneval, P., Burke, M. M., BUTANY, J. W., Calabrese, F., et al. (2011) · Cardiovascular Pathology · doi:10.1016/j.carpath.2011.10.001 · Cited by 531 · see citing works
Intracellular iron transport and storage: from molecular mechanisms to health implications
Mackenzie, E. L., Iwasaki, K., & Tsuji, Y. (2008) · Antioxidants & Redox Signaling · doi:10.1089/ars.2007.1893 · Cited by 526 · see citing works
Guidelines on the use of therapeutic apheresis in clinical practice—Evidence‐based approach from the apheresis applications committee of the American Society for Apheresis
Szczepiorkowski, Z. M., Winters, J. L., Bandarenko, N., Kim, H. C., Linenberger, M. L., Marques, M. B., Sarode, R., Schwartz, J. E., Weinstein, R. S., & Shaz, B. H. (2010) · Journal of Clinical Apheresis · doi:10.1002/jca.20240 · Cited by 506 · see citing works
Cardiomyopathy in Children: Classification and Diagnosis: A Scientific Statement From the American Heart Association
Lipshultz, S. E., Law, Y. M., Asante‐Korang, A., Austin, E. D., Dipchand, A. I., Everitt, M. D., Hsu, D. T., Lin, K. Y., Price, J. F., Wilkinson, J. D., et al. (2019) · Circulation · doi:10.1161/cir.0000000000000682 · Cited by 422 · see citing works
The complex interplay of iron metabolism, reactive oxygen species, and reactive nitrogen species: insights into the potential of various iron therapies to induce oxidative and nitrosative stress
Koskenkorva-Frank, T. S., Weiss, G., Koppenol, W. H., & Burckhardt, S. (2013) · Free Radical Biology and Medicine · doi:10.1016/j.freeradbiomed.2013.09.001 · Cited by 406 · see citing works
Redox mechanisms in hepatic chronic wound healing and fibrogenesis
Novo, E., & Parola, M. (2008) · Fibrogenesis & Tissue Repair · doi:10.1186/1755-1536-1-5 · Cited by 406 · see citing works
Hepcidin—a regulator of intestinal iron absorption and iron recycling by macrophages
GANZ, T. (2005) · Best Practice & Research Clinical Haematology · doi:10.1016/j.beha.2004.08.020 · Cited by 393 · see citing works
Hemojuvelin is essential for dietary iron sensing, and its mutation leads to severe iron overload
Niederkofler, V. (2005) · Journal of Clinical Investigation · doi:10.1172/jci25683 · Cited by 368 · see citing works
Iron in fatty liver and in the metabolic syndrome: A promising therapeutic target
Dongiovanni, P., Fracanzani, A. L., Fargion, S. R., & Valenti, L. V. C. (2011) · Journal of Hepatology · doi:10.1016/j.jhep.2011.05.008 · Cited by 360 · see citing works
Iron Overload Cardiomyopathy in Clinical Practice
Kremastinos, D. T., & Farmakis, D. T. (2011) · Circulation · doi:10.1161/circulationaha.111.050773 · Cited by 358 · see citing works
Oxidative Stress and Iron Homeostasis: Mechanistic and Health Aspects
Galaris, D., & Pantopoulos, K. (2008) · Critical Reviews in Clinical Laboratory Sciences · doi:10.1080/10408360701713104 · Cited by 352 · see citing works
Iron imports. IV. Hepcidin and regulation of body iron metabolism
Ganz, T., & Nemeth, E. (2006) · American Journal of Physiology-Gastrointestinal and Liver Physiology · doi:10.1152/ajpgi.00412.2005 · Cited by 347 · see citing works
Biomarkers of Nutrition for Development (BOND)—Iron Review
Lynch, S. R., Pfeiffer, C. M., Georgieff, M., Brittenham, G. M., Fairweather‐Tait, S. J., Hurrell, R. F., McArdle, H. J., & Raiten, D. J. (2018) · Journal of Nutrition · doi:10.1093/jn/nxx036 · Cited by 348 · see citing works
Update in global trends and aetiology of hepatocellular carcinoma
Rawla, P., Sunkara, T., Muralidharan, P., & Raj, J. P. (2018) · Współczesna Onkologia · doi:10.5114/wo.2018.78941 · Cited by 332 · see citing works
Iron Overload Cardiomyopathy
Gujja, P., Rosing, D. R., Tripodi, D. J., & Shizukuda, Y. (2010) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2010.03.083 · Cited by 328 · see citing works
Iron at the interface of immunity and infection
Nairz, M., Haschka, D., Demetz, E., & Weiss, G. (2014) · Frontiers in Pharmacology · doi:10.3389/fphar.2014.00152 · Cited by 325 · see citing works
“…hemochromatosis, against infection with the intracellular bacteria Salmonella and Mycobacteria (Olakanmi et al., 2007; Corradini et al., 2009; Nairz et al., 2009b), which may also be a reason of the high penetrance of this genes in people of Northern and Western European origin (Pietrangelo, 2004).”
Background
Structure-function analysis of ferroportin defines the binding site and an alternative mechanism of action of hepcidin
Aschemeyer, S., Qiao, B., Stefanova, D., Valore, E. V., Sek, A. C., Ruwe, T. A., Vieth, K. R., Jung, G., Casu, C., Rivella, S., et al. (2018) · Blood · doi:10.1182/blood-2017-05-786590 · Cited by 325 · see citing works
Iron metabolism in the anemia of chronic disease
Weiss, G. (2009) · Biochimica et Biophysica Acta (BBA) - General Subjects · doi:10.1016/j.bbagen.2008.08.006 · Cited by 322 · see citing works
Update on Bispectral Index monitoring
Johansen, J. W. (2006) · Best practice & research. Clinical anaesthesiology · doi:10.1016/j.bpa.2005.08.004 · Cited by 308 · see citing works
ER Stress Controls Iron Metabolism Through Induction of Hepcidin
Vecchi, C., Montosi, G., Zhang, K., Lamberti, I., Duncan, S. A., Kaufman, R. J., & Pietrangelo, A. (2009) · Science · doi:10.1126/science.1176639 · Cited by 310 · see citing works
Self-citation
Iron-Overload Cardiomyopathy: Pathophysiology, Diagnosis, and Treatment
Murphy, C. J., & Oudit, G. Y. (2010) · Journal of Cardiac Failure · doi:10.1016/j.cardfail.2010.05.009 · Cited by 307 · see citing works
The Role of Iron Regulation in Immunometabolism and Immune-Related Disease
Cronin, S. J. F., Woolf, C. J., Weiss, G., & Penninger, J. M. (2019) · Frontiers in Molecular Biosciences · doi:10.3389/fmolb.2019.00116 · Cited by 299 · see citing works
Quantification of liver iron with MRI: State of the art and remaining challenges
Hernando, D., Levin, Y. S., Sirlin, C. B., & Reeder, S. B. (2014) · Journal of Magnetic Resonance Imaging · doi:10.1002/jmri.24584 · Cited by 280 · see citing works
Hepcidin mRNA levels in mouse liver respond to inhibition of erythropoiesis
Vokurka, M., Krijt, J., Šulc, K., & Nečas, E. (2006) · Physiological Research · doi:10.33549/physiolres.930841 · Cited by 263 · see citing works
Resistance to hepcidin is conferred by hemochromatosis-associated mutations of ferroportin
Drakesmith, H., Schimanski, L. M., Ormerod, E., Merryweather-Clarke, A. T., Viprakasit, V., Edwards, J. P., Sweetland, E., Bastin, J. M., Cowley, D., Chinthammitr, Y., et al. (2005) · Blood · doi:10.1182/blood-2005-02-0561 · Cited by 264 · see citing works
Hepatitis C virus-induced reactive oxygen species raise hepatic iron level in mice by reducing hepcidin transcription
Nishina, S., Hino, K., Korenaga, M., Vecchi, C., Pietrangelo, A., Mizukami, Y., Furutani, T., Sakai, A., Okuda, M., Hidaka, I., et al. (2008) · Gastroenterology · doi:10.1053/j.gastro.2007.10.011 · Cited by 259 · see citing works
Self-citation
Orchestration of Iron Homeostasis
Fleming, R. E., & Bacon, B. R. (2005) · New England Journal of Medicine · doi:10.1056/nejmp048363 · Cited by 258 · see citing works
A precious metal: Iron, an essential nutrient for all cells
Cairo, G., Bernuzzi, F., & Recalcati, S. (2006) · Genes & Nutrition · doi:10.1007/bf02829934 · Cited by 252 · see citing works
PNPLA3 I148M polymorphism and progressive liver disease
Dongiovanni, P. (2013) · World Journal of Gastroenterology · doi:10.3748/wjg.v19.i41.6969 · Cited by 252 · see citing works
Hepatic Iron Overload and Hepatocellular Carcinoma
Kew, M. C. (2014) · Liver Cancer · doi:10.1159/000343856 · Cited by 241 · see citing works
Iron overload and toxicity: the hidden risk of multiple blood transfusions
Shander, A., Cappellini, M. D., & Goodnough, L. T. (2009) · Vox Sanguinis · doi:10.1111/j.1423-0410.2009.01207.x · Cited by 236 · see citing works
Regulation of iron acquisition and iron distribution in mammals
Ganz, T., & Nemeth, E. (2006) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · doi:10.1016/j.bbamcr.2006.03.014 · Cited by 234 · see citing works
The Spectrum of Achalasia: Lessons From Studies of Pathophysiology and High-Resolution Manometry
Kahrilas, P. J., & Boeckxstaens, G. E. (2013) · Gastroenterology · doi:10.1053/j.gastro.2013.08.038 · Cited by 234 · see citing works
Cellular iron: Ferroportin is the only way out
Ganz, T. (2005) · Cell Metabolism · doi:10.1016/j.cmet.2005.02.005 · Cited by 232 · see citing works
Transition metal homeostasis: from yeast to human disease
Bleackley, M. R., & MacGillivray, R. T. A. (2011) · BioMetals · doi:10.1007/s10534-011-9451-4 · Cited by 232 · see citing works
Diferric transferrin regulates transferrin receptor 2 protein stability
Johnson, M. B., & Enns, C. A. (2004) · Blood · doi:10.1182/blood-2004-06-2477 · Cited by 230 · see citing works
Risk of HCC: Genetic heterogeneity and complex genetics
Dragani, T. A. (2009) · Journal of Hepatology · doi:10.1016/j.jhep.2009.11.015 · Cited by 226 · see citing works
Altered body iron distribution and microcytosis in mice deficient in iron regulatory protein 2 (IRP2)
Galy, B., Ferring–Appel, D., Miñana, B., Bell, O., Janser, H., Muckenthaler, M. U., Schümann, K., & Hentze, M. W. (2005) · Blood · doi:10.1182/blood-2005-04-1365 · Cited by 222 · see citing works
Role of L-type Ca2+ channels in iron transport and iron-overload cardiomyopathy
Oudit, G. Y., Trivieri, M. G., Khaper, N., Liu, P. P., & Backx, P. H. (2006) · Journal of Molecular Medicine · doi:10.1007/s00109-005-0029-x · Cited by 222 · see citing works
Association of hemochromatosis with infectious diseases: expanding spectrum
Khan, F. A., Fisher, M. A., & Khakoo, R. A. (2007) · International Journal of Infectious Diseases · doi:10.1016/j.ijid.2007.04.007 · Cited by 216 · see citing works
Magnetic Resonance Imaging Quantification of Liver Iron
Sirlin, C. B., & Reeder, S. B. (2010) · Magnetic Resonance Imaging Clinics of North America · doi:10.1016/j.mric.2010.08.014 · Cited by 215 · see citing works
Hemochromatosis: An endocrine liver disease
Pietrangelo, A. (2007) · Hepatology · doi:10.1002/hep.21886 · Cited by 212 · see citing works
Self-citation
RNA modifications by oxidation: A novel disease mechanism?
Poulsen, H. E., Specht, E., Broedbaek, K., Henriksen, T., Ellervik, C., Mandrup-Poulsen, T. R., Tonnesen, M., Nielsen, P. E., Andersen, H. U., & Weimann, A. (2012) · Free Radical Biology and Medicine · doi:10.1016/j.freeradbiomed.2012.01.009 · Cited by 211 · see citing works
Bass Hepcidin Synthesis, Solution Structure, Antimicrobial Activities and Synergism, and in Vivo Hepatic Response to Bacterial Infections
Lauth, X., Babon, J. J., Stannard, J. A., Singh, S., Nizet, V., Carlberg, J. M., Ostland, V. E., Pennington, M. W., Norton, R. S., & Westerman, M. E. (2004) · Journal of Biological Chemistry · doi:10.1074/jbc.m411154200 · Cited by 206 · see citing works
Proton pump inhibitors suppress absorption of dietary non-haem iron in hereditary haemochromatosis
Hutchinson, C., Geissler, C. A., Powell, J. J., & Bomford, A. B. (2007) · Gut · doi:10.1136/gut.2006.108613 · Cited by 204 · see citing works
Association between iron overload and osteoporosis in patients with hereditary hemochromatosis
Valenti, L., Varenna, M., Fracanzani, A. L., Rossi, V., Fargion, S., & Sinigaglia, L. (2009) · Osteoporosis International · doi:10.1007/s00198-008-0701-4 · Cited by 203 · see citing works
Screening for Hereditary Hemochromatosis: A Systematic Review for the U.S. Preventive Services Task Force
Whitlock, E. P., Garlitz, B. A., Harris, E. L., Beil, T. L., & Smith, P. R. (2006) · Annals of Internal Medicine · doi:10.7326/0003-4819-145-3-200608010-00009 · Cited by 200 · see citing works
Understanding iron homeostasis through genetic analysis of hemochromatosis and related disorders
Camaschella, C. (2005) · Blood · doi:10.1182/blood-2005-05-1857 · Cited by 194 · see citing works
Pathways underlying iron accumulation in human nonalcoholic fatty liver disease
Aigner, E., Theurl, I., Theurl, M., Lederer, D., Haufe, H., Dietze, O., Strasser, M., Datz, C., & Weiss, G. (2008) · The American Journal of Clinical Nutrition · doi:10.1093/ajcn/87.5.1374 · Cited by 190 · see citing works
Physiology and pathophysiology of iron in hemoglobin-associated diseases
Coates, T. D. (2014) · Free Radical Biology and Medicine · doi:10.1016/j.freeradbiomed.2014.03.039 · Cited by 181 · see citing works
Liver iron transport
Graham, R. M. (2007) · World Journal of Gastroenterology · doi:10.3748/wjg.v13.i35.4725 · Cited by 180 · see citing works
The Iron Regulatory Peptide Hepcidin Is Expressed in the Heart and Regulated by Hypoxia and Inflammation
Merle, U., Fein, E., Gehrke, S. G., Stremmel, W., & Kulaksiz, H. (2007) · Endocrinology · doi:10.1210/en.2006-1331 · Cited by 173 · see citing works
Liver Iron Quantification with MR Imaging: A Primer for Radiologists
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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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