Hemochromatosis: An endocrine liver disease
Open accessAbstract
This review acknowledges the recent and dramatic advancement in the field of hemochromatosis and highlights the surprising analogies with a prototypic endocrine disease, diabetes. The term hemochromatosis should refer to a unique clinicopathologic subset of iron-overload syndromes that currently includes the disorder related to the C282Y homozygote mutation of the hemochromatosis protein HFE (by far the most common form of hemochromatosis) and the rare disorders more recently attributed to the loss of transferrin receptor 2, HAMP (hepcidin antimicrobial peptide), or hemojuvelin or to certain ferroportin mutations. The defining characteristic of this subset is failure to prevent unneeded iron from entering the circulatory pool as a result of genetic changes compromising the synthesis or activity of hepcidin, the iron hormone. Like diabetes, hemochromatosis results from the complex, nonlinear interaction between genetic and acquired factors. Depending on the underlying mutation, the coinheritance of modifier genes, the presence of nongenetic hepcidin inhibitors, and other host-related factors, the clinical manifestation may vary from simple biochemical abnormalities to severe multiorgan disease. The recognition of the endocrine nature of hemochromatosis suggests intriguing possibilities for new and more effective approaches to diagnosis and treatment.
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Different forms of hemochromatosis have reduced production of hepcidin.
“Different forms of hemochromatosis have been described which all have a reduced production of the hormone, hepcidin (Pietrangelo, 2007; Weiss, 2010; Figure 1).”
From The Role of Iron Regulation in Immunometabolism and Immune-Related Disease (2019) · cites this paper as Pietrangelo, 2007
Testosterone regulates hepcidin transcription in mice through regulation of bone morphogenetic protein (BMP) signaling mechanisms.
“We have reported recently that testosterone regulates hepcidin transcription in mice through regulation of bone morphogenetic protein (BMP) signaling mechanisms (26).”
From Testosterone induces erythrocytosis via increased erythropoietin and suppressed hepcidin: evidence for a new erythropoietin/hemoglobin set point (2014) · cites this paper as [26]
Testosterone increases hemoglobin accumulation in differentiating erythroleukemia cells.
“Furthermore, we have shown that testosterone increases hemoglobin accumulation in differentiating erythroleukemia cells (26).”
From Testosterone induces erythrocytosis via increased erythropoietin and suppressed hepcidin: evidence for a new erythropoietin/hemoglobin set point (2014) · cites this paper as [26]
Testosterone stimulates the incorporation of intravenously administered transferrin-bound diferric 58Fe into red blood cells in mice.
“Our studies in mice indicate that testosterone stimulates the incorporation”
From Testosterone induces erythrocytosis via increased erythropoietin and suppressed hepcidin: evidence for a new erythropoietin/hemoglobin set point (2014) · cites this paper as [26]
Testosterone directly suppresses hepcidin transcription independently of its effects on EPO levels in mice.
“Our studies in mice suggest that testosterone directly suppresses hepcidin transcription independently of its effects on EPO levels (26).”
From Testosterone induces erythrocytosis via increased erythropoietin and suppressed hepcidin: evidence for a new erythropoietin/hemoglobin set point (2014) · cites this paper as [26]
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Fargion, S. R., Valenti, L. V. C., & Fracanzani, A. L. (2010) · Digestive and Liver Disease · doi:10.1016/j.dld.2010.07.006 · Cited by 89 · see citing works
“The liver produces epcidin in response to body iron excess and inflammation, hereas hepcidin release is downregulated by anemia, hypoxia nd free radicals, with high values associated with reduced and ow values increased iron absorption [3,18].”
BackgroundHereditary hemochromatosis and diabetes mellitus: implications for clinical practice
Utzschneider, K. M., & Kowdley, K. V. (2009) · Nature Reviews Endocrinology · doi:10.1038/nrendo.2009.241 · Cited by 83 · see citing works
“A detailed discussion of the pathophysiology of hemochromatosis is beyond the scope of this review and has been covered by other reviews”
BackgroundIron in NASH, chronic liver diseases and HCC: How much iron is too much?
Pietrangelo, A. (2008) · Journal of Hepatology · doi:10.1016/j.jhep.2008.11.011 · Cited by 84 · see citing works
Glucose acts as a regulator of serum iron by increasing serum hepcidin concentrations
Aigner, E. S., Felder, T. K., Oberkofler, H., Hahne, P., Auer, S., Soyal, S. M., Stadlmayr, A., Schwenoha, K., Pirich, C., Hengster, P., et al. (2012) · The Journal of Nutritional Biochemistry · doi:10.1016/j.jnutbio.2012.02.017 · Cited by 75 · see citing works
“Pietrangelo proposed an intriguing concept of the regulation of systemic iron homeostasis as an endocrine feedback mechanism similar to the regulation of serum glucose concentrations by insulin [39].”
BackgroundCirculating Hepcidin-25 Is Reduced by Endogenous Estrogen in Humans
Lehtihet, M., Bonde, Y., Beckman, L., Berinder, K., Höybye, C., Rudling, M. J., Sloan, J. H., Konrad, R. J., & Angelin, B. (2016) · PLoS ONE · doi:10.1371/journal.pone.0148802 · Cited by 75 · see citing works
Regulatory Connections between Iron and Glucose Metabolism
Fillebeen, C., Lam, N. H., Chow, S., Botta, A. M., Sweeney, G., & Pantopoulos, K. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21207773 · Cited by 72 · see citing works
“Levels of both plasma iron and glucose are subjected to negative hormonal regulation by hepcidin and insulin, respectively [56].”
BackgroundHaemochromatosis: The bone and the joint
Guggenbuhl, P., Brissot, P., & Loréal, O. (2011) · Best Practice & Research Clinical Rheumatology · doi:10.1016/j.berh.2011.10.014 · Cited by 64 · see citing works
Dietary iron loading negatively affects liver mitochondrial function
Volani, C., Doerrier, C., Demetz, E., Haschka, D., Paglia, G., Lavdas, A. A., Gnaiger, E., & Weiss, G. (2017) · Metallomics · doi:10.1039/c7mt00177k · Cited by 59 · see citing works
Alterations in the redox state and liver damage: Hints from the EASL Basic School of Hepatology
Tell, G., Vascotto, C., & Tiribelli, C. (2012) · Journal of Hepatology · doi:10.1016/j.jhep.2012.09.018 · Cited by 61 · see citing works
“The most studied disease model of iron toxicity is represented by hereditary hemochromatosis (HH), where defective regulation of systemic iron metabolism due to defective release or activity of the hormone hepcidin leads to hepatic and later parenchymal systemic iron overload [92].”
BackgroundMaakaron, J. E., Cappellini, Graziadei, G., Ayache, J. B., & Taher, A. T. (2013) · Annals of Hepatology · doi:10.1016/s1665-2681(19)31397-3 · Cited by 53 · see citing works
Ganz, T., Aronoff, G. R., Gaillard, S., Goodnough, L. T., Macdougall, I. C., Mayer, G. J., Porto, G., Winkelmayer, W. C., & Wish, J. B. (2020) · Kidney Medicine · doi:10.1016/j.xkme.2020.01.006 · Cited by 53 · see citing works
“HFE-associated hereditary hemochromatosis can be associated with longterm TSAT elevations (eg, >75%) and long-term exposure to non–transferrin-bound iron.(64,72,73) Such findings are not generally observed with current IV iron use practices in the CKD population.”
BackgroundValenti, L. V. C. (2012) · World Journal of Gastroenterology · doi:10.3748/wjg.v18.i22.2813 · Cited by 52 · see citing works
Das, S. K., DesAulniers, J., Dyck, J. R. B., Kassiri, Z., & Oudit, G. Y. (2015) · Liver International · doi:10.1111/liv.12893 · Cited by 51 · see citing works
“Our HJVKO mice were used to simulate both chronic and advanced iron-overload in a genetic hemochromatosis model (9, 36) whereby the lack of the functional hemojuvelin protein downregulates hepcidin expression leading to abnormal iron homeostasis, uncontrolled gut absorption of iron, and iron-overload (2, 8, 9).”
MethodYun, S., & Vincelette, N. D. (2015) · Critical Reviews in Oncology/Hematology · doi:10.1016/j.critrevonc.2015.02.006 · Cited by 51 · see citing works
“In non-HFE related or 282Y/H63D heterozygous hemochromatosis, ferritin proides valuable information since elevated ferritin levels can e the only abnormal laboratory finding without elevation f TS [112].”
BackgroundHepcidin assay in serum by SELDI-TOF-MS and other approaches
Castagna, A., Campostrini, N., Zaninotto, F., & Girelli, D. (2009) · Journal of Proteomics · doi:10.1016/j.jprot.2009.08.003 · Cited by 48 · see citing works
The A736V TMPRSS6 Polymorphism Influences Hepatic Iron Overload in Nonalcoholic Fatty Liver Disease
Valenti, L. V. C., Rametta, R., Dongiovanni, P., Motta, B. M., Canavesi, E., Pelusi, S., Pulixi, E. A., Fracanzani, A. L., & Fargion, S. R. (2012) · PLoS ONE · doi:10.1371/journal.pone.0048804 · Cited by 48 · see citing works
Hepcidin resistance in dysmetabolic iron overload
Rametta, R., Dongiovanni, P., Pelusi, S., Francione, P., Iuculano, F., Borroni, V. N., Fatta, E., Castagna, A., Girelli, D., Fargion, S. R., et al. (2016) · Liver International · doi:10.1111/liv.13124 · Cited by 46 · see citing works
“Conversely, HH is caused by decreased hepcidin release in response to iron overload (32).”
BackgroundResultLétocart, É., Gac, G. L., Majore, S., Ka, C., Radio, F. C., Gourlaouen, I., Bernardo, C. D., Férec, C., & Grammatico, P. (2009) · British Journal of Haematology · doi:10.1111/j.1365-2141.2009.07834.x · Cited by 46 · see citing works
“Thus, it corresponds to an iron overload syndrome that is clearly distinctive from HC types 1–3, and which is best recognized as the ferroportin disease (Pietrangelo, 2007).”
BackgroundNon-HFE hemochromatosis: Pathophysiological and diagnostic aspects
Bardou‐Jacquet, E., Ali, Z. B., Beaumont-Epinette, M.-P., Loréal, O., Jouanolle, A., & Brissot, P. (2013) · Clinics and Research in Hepatology and Gastroenterology · doi:10.1016/j.clinre.2013.11.003 · Cited by 45 · see citing works
Porphyria cutanea tarda: an intriguing genetic disease and marker
Handler, N. S., Handler, M. Z., Stephany, M., Handler, G. A., & Schwartz, R. A. (2017) · International Journal of Dermatology · doi:10.1111/ijd.13580 · Cited by 45 · see citing works
Czaja, A. J. (2019) · Alimentary Pharmacology & Therapeutics · doi:10.1111/apt.15173 · Cited by 47 · see citing works
“plasmin gene could alter the sensing of iron levels, efflux of iron from cells, and iron absorption.(4,173,204,205)”
BackgroundHepcidin and HFE protein: Iron metabolism as a target for the anemia of chronic kidney disease
Canavesi, E. (2012) · World Journal of Nephrology · doi:10.5527/wjn.v1.i6.166 · Cited by 43 · see citing works
Girelli, D., Domenico, I. D., Bozzini, C., Campostrini, N., Busti, F., Castagna, A., Soriani, N., Cremonesi, L., Ferrari, M., Colombari, R., et al. (2008) · Journal of Hepatology · doi:10.1016/j.jhep.2008.05.028 · Cited by 41 · see citing works
“A number of clinical considerations are consistent with this view: (1) the TS, though high, was lower than expected considering the extreme elevation of serum ferritin and the degree of iron overload at diagnosis, suggesting a late TS increase similar to that previously reported by others [5]; (2) the MRI at diagnosis…”
Hypogonadotropic hypogonadism in men with hereditary hemochromatosis
Osta, R. E., Grandpré, N., Monnin, N., Hubert, J., & Koscinski, I. (2017) · Basic and Clinical Andrology · doi:10.1186/s12610-017-0057-8 · Cited by 40 · see citing works
“In healthy humans, the peptide hormone hepcidin plays a key role in iron homeostasis like insulin in glucose metabolism [9].”
Knockout Mouse Models of Iron Homeostasis
Fleming, R. E., Qi, F., & Britton, R. S. (2011) · Annual Review of Nutrition · doi:10.1146/annurev-nutr-072610-145117 · Cited by 39 · see citing works
Specificity Proteins (SP) and Krüppel-like Factors (KLF) in Liver Physiology and Pathology
Yerra, V. G., & Drosatos, K. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms24054682 · Cited by 38 · see citing works
Iron chelation beyond transfusion iron overload
Pietrangelo, A. (2007) · American Journal of Hematology · doi:10.1002/ajh.21101 · Cited by 38 · see citing works
“, macrophages in anemia of chronic disease and classic ferroportin disease) or organs (the liver in viral hepatitis or the brain in some neurodegenerative disorders) [1].”
BackgroundInherited metabolic disease of the liver
Taddei, T. H., Mistry, P. K., & Schilsky, M. L. (2008) · Current Opinion in Gastroenterology · doi:10.1097/mog.0b013e3282fcbc0f · Cited by 38 · see citing works
Manco, M., Alisi, A., Real, J.-M. F., Equitani, F., Vito, R. D., Valenti, L. V. C., & Nobili, V. (2010) · Journal of Hepatology · doi:10.1016/j.jhep.2010.12.007 · Cited by 39 · see citing works
“In addition, the negative effect of iron overload on the development of organ damage has been reported to be dependent on both the amount and the duration of exposure, suggesting that the biological effects of iron overload may be delayed until later in life [37].”
BackgroundInfluentialValenti, L. V. C., Fracanzani, A. L., Rametta, R., Fraquelli, M., Soverini, G., Pelusi, S., Dongiovanni, P., Conte, D., & Fargion, S. R. (2012) · Journal of Hepatology · doi:10.1016/j.jhep.2012.07.041 · Cited by 37 · see citing works
“Hereditary hemochromatosis (HH) is an iron overload disorder resulting from defective release or activity of hepcidin [1], the hepatic hormone that inhibits iron absorption by binding to and inactivating ferroportin [2], the only known cellular iron exporter involved in duodenal iron absorption and iron recycling from…”
BackgroundSchaefer, B., Haschka, D., Finkenstedt, A., Petersen, B.-S., Theurl, I., Henninger, B., Janecke, A. R., Wang, C.-Y., Lin, H. Y., Veits, L., et al. (2015) · Human Molecular Genetics · doi:10.1093/hmg/ddv348 · Cited by 35 · see citing works
Stable Isotope Composition of Metal Elements in Biological Samples as Tracers for Element Metabolism
Tanaka, Y., & Hirata, T. (2018) · Analytical Sciences · doi:10.2116/analsci.18sbr02 · Cited by 35 · see citing works
Scamuffa, N., Basak, A., Lalou, C., Wargnier, A., Marcinkiewicz, J., Siegfried, G., Chrétien, M., Calvo, F. M., Seidah, N. G., & Khatib, A. (2008) · Gut · doi:10.1136/gut.2007.141812 · Cited by 34 · see citing works
Hatunic, M., Finucane, F. M., Norris, S., Pacini, G., & Nolan, J. J. (2010) · Metabolism · doi:10.1016/j.metabol.2010.06.005 · Cited by 32 · see citing works
“Like diabetes, hemochromatosis results from complex, nonlinear interaction between genetic and acquired factors [33].”
BackgroundLuna-Morales, M. E., & Collazo‐Reyes, F. (2007) · Revista española de Documentación Científica · doi:10.3989/redc.2007.v30.i4.403 · Cited by 32 · see citing works
HFE Mutations Modulate the Effect of Iron on Serum Hepcidin-25 in Chronic Hemodialysis Patients
Valenti, L. V. C., Girelli, D., Valenti, G., Castagna, A., Como, G., Campostrini, N., Rametta, R., Dongiovanni, P., Messa, P., & Fargion, S. R. (2009) · Clinical Journal of the American Society of Nephrology · doi:10.2215/cjn.01370209 · Cited by 32 · see citing works
“Theoretically, increased hepcidin levels may reduce intestinal iron absorption and iron recycling from monocytes (24), decreasing serum iron available for the erythropoiesis (28) and the therapeutic effect of ESAs and i.”
BackgroundHayashi, H., Hattori, A., Tatsumi, Y., Hayashi, K., Katano, Y., Ueyama, J., Wakusawa, S., Yano, M., & Goto, H. (2013) · Medical Molecular Morphology · doi:10.1007/s00795-013-0015-2 · Cited by 31 · see citing works
“Lysosomal element patterns may be related to the sex and age of patients, anti-copper treatment period, and complications, such as hemolysis and a bleeding peptic ulcer [1, 8].”
BackgroundControl of iron metabolism – Lessons from neonatal hemochromatosis
Zoller, H., & Knisely, A. S. (2012) · Journal of Hepatology · doi:10.1016/j.jhep.2012.02.012 · Cited by 31 · see citing works
“overload in which deficiency of the iron hormone hepcidin is the unifying feature of all disorders with hepatocellular iron accumulation [6].”
BackgroundTrombini, P., Paolini, V., Pelucchi, S., Mariani, R., Nemeth, E., Ganz, T., & Piperno, A. (2011) · Liver International · doi:10.1111/j.1478-3231.2011.02520.x · Cited by 28 · see citing works
“Exclusion criteria were (i) other known causes of hepatic iron overload (15) and (ii) conditions able to influence hepcidin production (6).”
BackgroundGaruti, C., Tian, Y., Montosi, G., Sabelli, M., Corradini, E., Graf, R., Ventura, P., Vegetti, A., Clavien, P., & Pietrangelo, A. (2010) · Gastroenterology · doi:10.1053/j.gastro.2010.03.043 · Cited by 28 · see citing works
Inadequate hepcidin serum concentrations predict incident type 2 diabetes mellitus
Pechlaner, R., Weiß, G., Bansal, S. S., Mayr, M., Santer, P., Pallhuber, B., Notdurfter, M., Bonora, E., Willeit, J., & Kiechl, S. J. (2015) · Diabetes/Metabolism Research and Reviews · doi:10.1002/dmrr.2711 · Cited by 26 · see citing works
“The mechanisms underlying these observations remain elusive but may include genetic polymorphisms of iron regulating genes as found in other genetic iron loading diseases [18,19] along with the inhibitory effects of hormones including insulin and glucagon, growth factors and (adipo)cytokines on hepcidin expression [13…”
BackgroundResultMetal storage disorders: Wilson disease and hemochromatosis.
Kanwar, P. S., & Kowdley, K. (2014) · The Medical clinics of North America · doi:10.1016/j.mcna.2013.09.008 · Cited by 21 · see citing works
“Hepcidin secretion is increased proportionately to iron absorption in duodenum, similar to the action of insulin in hyperglycemia.(9) Hepcidin prevents cellular iron export by binding to and internalizing ferroportin, which exports iron from cells.”
BackgroundA novel monoclonal antibody immunoassay for the detection of human serum hepcidin
Schwarz, P., Strnad, P., von Figura, G., Janetzko, A., Krayenbühl, P. A., Adler, G., & Kulaksiz, H. (2010) · Journal of Gastroenterology · doi:10.1007/s00535-010-0344-z · Cited by 25 · see citing works
“Due to mutations in HFE, TFR2, HJV, or HAMP, hemochromatotic patients lost their ability to regulate the expression or activity of hepcidin appropriately [7].”
InfluentialGérolami, V., Gac, G. L., Mercier, L., Nezri, M., Bergé-Lefranc, J. L., & Férec, C. (2008) · Haematologica · doi:10.3324/haematol.12884 · Cited by 25 · see citing works
“HC also involves certain mutations of the ferroportin gene (SLC40A1), albeit most of the SLC40A1related patients display a distinct iron overload syndrome that is recognized as the ferroportin disease.(1) In the present study, we aimed to identify the genetic basis of iron overload in a 28-year-old woman of Italian de…”
BackgroundPathogenesis, Diagnosis and Treatment of Hemochromatosis
Zoller, H., & Henninger, B. (2016) · Digestive Diseases · doi:10.1159/000444549 · Cited by 24 · see citing works
Hepcidin Is an Antibacterial, Stress-Inducible Peptide of the Biliary System
Strnad, P., Schwarz, P., Rasenack, M., Kücükoglu, Ö., Habib, R. I., Heuberger, D., Ehehalt, R., Müller, M. W., Stiehl, A., Adler, G., et al. (2011) · PLoS ONE · doi:10.1371/journal.pone.0016454 · Cited by 24 · see citing works
O’Glasser, A. Y., Scott, D. L., Corless, C. L., Zaman, A., Sasaki, A. W., Gopal, D. V., Rayhill, S. C., Orloff, S. L., Ham, J. M., Rabkin, J. M., et al. (2009) · Clinical Transplantation · doi:10.1111/j.1399-0012.2009.01136.x · Cited by 23 · see citing works
“Patients were biopsied at various points during their transplant evaluation, hepatic siderosis, and end-organ damage in hereditary hemochromatosis depend on the amount and duration of iron overload (33, 34, 35, 37, 39).”
BackgroundHereditary hemochromatosis: Laboratory evaluation
Moyer, T. P., Highsmith, W. E., Smyrk, T. C., & Gross, J. B. (2011) · Clinica Chimica Acta · doi:10.1016/j.cca.2011.04.007 · Cited by 23 · see citing works
“The common denominator for these genetic mutations is hepcidin deficiency [10-12].”
BackgroundIron depletion before HCV antiviral therapy: A pilot, randomized, controlled trial
Gentile, I., Viola, C., Paesano, L., D'Onofrio, M., D’Agostino, E., Cerini, R., Borrelli, F., Piazza, M., & Borgia, G. (2009) · Journal of Clinical Apheresis · doi:10.1002/jca.20210 · Cited by 23 · see citing works
Inherited metabolic disease of the liver
Pietrangelo, A. (2009) · Current Opinion in Gastroenterology · doi:10.1097/mog.0b013e328329e13d · Cited by 21 · see citing works
Molecular diagnosis of hemochromatosis
Piperno, A. (2013) · Expert Opinion on Medical Diagnostics · doi:10.1517/17530059.2013.763794 · Cited by 19 · see citing works
Diabetes mellitus Typ 3c – Prävalenz, Diagnose, Besonderheiten der Therapie
Bojunga, J., & Schlereth, F. (2018) · Der Diabetologe · doi:10.1007/s11428-018-0346-7 · Cited by 19 · see citing works
Body iron, serum ferritin, and nonalcoholic fatty liver disease
Shim, J. (2012) · The Korean Journal of Hepatology · doi:10.3350/kjhep.2012.18.1.105 · Cited by 19 · see citing works
“Iron is strictly regulated by a mechanism similar to that for glucose control.(17) Like glucose and insulin, the serum iron level is regulated by a hepatic peptide hormone, hepcidin.”
BackgroundPisano, G., Lombardi, R., & Fracanzani, A. L. (2016) · International Journal of Molecular Sciences · doi:10.3390/ijms17050675 · Cited by 19 · see citing works
“Hepcidin, mainly produced in the liver, is defined as the key hormone regulating iron balance [55].”
Hepcidin treatment in Hfe−/− mice diminishes plasma iron without affecting erythropoiesis
Morán‐Jiménez, M., Méndez, M., Santiago, B., Rodríguez‐García, M. E., Moreno‐Carralero, M., Sánchez‐Lucío, A., Grau, M., & de Salamanca, R. E. (2010) · European Journal of Clinical Investigation · doi:10.1111/j.1365-2362.2010.02291.x · Cited by 19 · see citing works
Matsumoto, A. M., & Bremner, W. J. (2016) · Elsevier eBooks · doi:10.1016/b978-0-323-29738-7.00019-8 · Cited by 18 · see citing works
Pathogens, Metabolic Adaptation, and Human Diseases—An Iron-Thrifty Genetic Model
Pietrangelo, A. (2015) · Gastroenterology · doi:10.1053/j.gastro.2015.08.003 · Cited by 18 · see citing works
Matsumoto, A. M., & Bremner, W. J. (2011) · Williams Textbook of Endocrinology · doi:10.1016/b978-1-4377-0324-5.00019-5 · Cited by 18 · see citing works
Liver Toxicity of Thioacetamide is Increased by Hepatocellular Iron Overload
Ackerman, Z., Pappo, O., Link, G., Glazer, M., & Grozovski, M. (2014) · Biological Trace Element Research · doi:10.1007/s12011-014-0110-9 · Cited by 17 · see citing works
Homozygous deletion of HFE produces a phenotype similar to the HFE p.C282Y/p.C282Y genotype
Gac, G. L., Gourlaouen, I., Ronsin, C., Géromel, V., Bourgarit, A., Parquet, N., Redon, S., Maréchal, C. L., Chen, J., & Férec, C. (2008) · Blood · doi:10.1182/blood-2008-07-167296 · Cited by 17 · see citing works
Viveiros, A., Schaefer, B., Panzer, M., Henninger, B., Plaikner, M., Kremser, C., Franke, A., Franzenburg, S., Hoeppner, M. P., Stauder, R., et al. (2021) · Hepatology · doi:10.1002/hep.31982 · Cited by 15 · see citing works
From Environment to Genome and Back: A Lesson from HFE Mutations
Rametta, R., Meroni, M., & Dongiovanni, P. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21103505 · Cited by 16 · see citing works
“This effect seems to be mediated by the persistence of hepcidin presence in wild-type mice even after an iron challenge, as it occurs in DIOS patients differently from HH [79,80].”
BackgroundDespite Genetic Iron Overload, Hfe‐Hemochromatosis Mice Do Not Show Bone Loss
Wagner, A., Alan, B., Yilmaz, D., Ahmad, M., Liu, P., Tangudu, N. K., Tuckermann, J. P., & Spasić, M. V. (2019) · JBMR Plus · doi:10.1002/jbm4.10206 · Cited by 16 · see citing works
Viveiros, A., Panzer, M., Baumgartner, N., Schaefer, B., Finkenstedt, A., Henninger, B., Theurl, I., Nachbaur, K., Weiß, G., Haubner, R., et al. (2020) · Liver International · doi:10.1111/liv.14539 · Cited by 17 · see citing works
Disturbances of Copper and Iron Metabolism
Lefkowitch, J. H. (2020) · Elsevier eBooks · doi:10.1016/b978-0-7020-7584-1.00014-0 · Cited by 15 · see citing works
- Authors
- Pietrangelo, A.
- Affiliations
- University of Modena and Reggio Emilia (IT)
- Corresponding author
- Pietrangelo, Antonello
- Venue
- Hepatology
- Published
- 2007-10
- Volume
- 46
- Issue
- 4
- Pages
- 1291-1301
- ISSN
- 0270-9139 (ISSN-L)
- OpenAlex
- W1981499088
- Cited by
- 212
- References
- 48
- Citations by year
- 2026: 2 · 2025: 5 · 2024: 2 · 2023: 5 · 2022: 3 · 2021: 2 · 2020: 10 · 2019: 6 · 2018: 9 · 2017: 11 · 2016: 13 · 2015: 9 · 2014: 10 · 2013: 14 · 2012: 21
- FWCI
- 3.32
- Type
- journal article
- Language
- en
- Open access
- green
- hdl.handle.net
- Locations
- Hepatology (publishedVersion)
- PubMed (publishedVersion)
- IRIS UNIMORE (University of Modena and Reggio Emilia) (submittedVersion, cc-by)
- Topics
- Health Sciences › Medicine › Hematology › Iron Metabolism and Disorders
- Life Sciences › Neuroscience › Neurology › Neurological diseases and metabolism
- Health Sciences › Nursing › Nutrition and Dietetics › Trace Elements in Health
- Keywords
- hemochromatosis, iron overload, HFE C282Y mutation, hepcidin, transferrin receptor 2, hemojuvelin, ferroportin, iron metabolism, genetic modifiers, endocrine disorders, multi-organ disease
- MeSH terms
- Hemochromatosis Protein, Endocrine System Diseases, Hemochromatosis, Homeostasis, Humans, Iron, Membrane Proteins, Mutation, Histocompatibility Antigens Class I, Antimicrobial Cationic Peptides, Hepcidins
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