Hereditary Hemochromatosis — A New Look at an Old Disease

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

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Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion

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A New Mouse Liver-specific Gene, Encoding a Protein Homologous to Human Antimicrobial Peptide Hepcidin, Is Overexpressed during Iron Overload

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Hepcidin, a key regulator of iron metabolism and mediator of anemia of inflammation

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Hepcidin, a putative mediator of anemia of inflammation, is a type II acute-phase protein

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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

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Diagnóstico y cuantificación de la sobrecarga férrica en el hígado mediante resonancia magnética

Echeverría, J. M. A., Eguzkiza, A. C., Echávarri, M. D. J., Knörr, J. I. E., Okasar, J. A., Uranga, M. U., Echevarría-Uraga, J. J., Hernández, M. M., Cenizo, M., Iturbe, J. A. L., et al. (2008) · Radiología · doi:10.1016/s0033-8338(08)71926-x · Cited by 2

Hypogonadism and Reduced Bone Mineral Density in Heterozygous H63D Mutation in the HFE Gene: An Unusual Presentation of Hereditary Hemochromatosis

Francucci, C. M., Gatti, C., Camilletti, A., Fiscaletti, P., Caudarella, R., & Boscaro, M. (2006) · Journal of Andrology · doi:10.2164/jandrol.106.000786 · Cited by 3

Elevated mean corpuscular volume in patients with hereditary hemochromatosis

Mikhail, S. E., & Phatak, P. D. (2008) · Comparative Clinical Pathology · doi:10.1007/s00580-008-0761-z · Cited by 2

Elevated hemoglobin concentration in 3 children with HFE mutation

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Hereditary haemochromatosis and blood donation

de Gonzalez, G. L. (2007) · ISBT Science Series · doi:10.1111/j.1751-2824.2007.00051.x · Cited by 2

Therapeutic phlebotomy procedures and their impact on a rural hospital's red blood cell inventory and fiscal stature

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Pharmacogenetics of Adverse Drug Reactions

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Male Hypogonadism and Liver Disease

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Abnormal Liver Enzymes

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Restrictive cardiomyopathy: A review of literature on clinical status and meta-analysis of diagnosis and clinical management methods table of contents

Albakri, A. (2018) · Internal Medicine and Care · doi:10.15761/imc.1000116 · Cited by 2

Hemochromatosis As an Unusual Cause of Pancreatitis in an African-American Female of Child-bearing Age

Hitawala, A. A., Alomari, M., Khazaaleh, S., Alomari, A., & Sanaka, M. R. (2020) · Cureus · doi:10.7759/cureus.7179 · Cited by 2

Hepatic Metabolism

Dancygier, H., Merle, U., Stremmel, W., & Niederau, C. (2009) · Springer eBooks · doi:10.1007/978-3-540-93842-2_6 · Cited by 2

Famine, tea, and bread in Ireland: C282Y and modern human microevolution

Burke, S. D. A., & Duffy, T. P. (2022) · American Journal of Biological Anthropology · doi:10.1002/ajpa.24520 · Cited by 2

Disturbances of Copper and Iron Metabolism

Lefkowitch, J. H. (2016) · Elsevier eBooks · doi:10.1016/b978-0-7020-5548-5.00014-1 · Cited by 2

Cirrhosis and portal hypertension

Pai, R. K., & Brunt, E. M. (2012) · Elsevier eBooks · doi:10.1016/b978-1-4377-1454-8.00070-9 · Cited by 2

Hemocromatosis: etiopatogenia, diagn?stico y estrategia terap?utica

Rueda, A. D. C. (2008) · Medicine - Programa de Formación Médica Continuada Acreditado · doi:10.1016/s0211-3449(08)73238-7 · Cited by 2

Chapter 70A – Cirrhosis and portal hypertension: Pathologic aspects

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Hematopoietic Abnormalities and Hemostasis

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Stany chorobowe związane z nadmiernym gromadzeniem żelaza oraz metody oznaczania zawartości żelaza w wątrobie

Olchowy, C., Frączkiewicz, J., Pawłowski, M., Smoląg, D., Olchowy, A., Маслак, А. С., Zaleska–Dorobisz, U., & Kałwak, K. (2017) · Acta Haematologica Polonica · doi:10.1016/j.achaem.2017.08.004 · Cited by 2

“Role of HFE gene in coronary artery disease” – A study from India

Sumi, M. P., Guru, S. A., Sahu, S., Bazila, B., Girish, M. P., & Saxena, A. (2019) · Clinical Epidemiology and Global Health · doi:10.1016/j.cegh.2019.10.011 · Cited by 2

Restrictive Cardiomyopathy

Kirkels, J. H., & de Jonge, N. (2016) · Springer eBooks · doi:10.1007/978-3-319-44203-7_8 · Cited by 2

Deposition diseases cardiomyopathy: A review and pooled analysis of pathophysiology, diagnosis and clinical management

Albakri, A. (2019) · Trends in Research · doi:10.15761/tr.1000147 · Cited by 2

Clinical-Pathological Conference Series from the Medical University of Graz

Fabian, E., Schneeweiß, B., Valentin, T., Flick, H., Aigelsreiter, A., Hofmann‐Wellenhof, R., Cerroni, L., Goritschan, A., Brezinsek, H. P., Zitta, S., et al. (2017) · Wiener klinische Wochenschrift · doi:10.1007/s00508-016-1164-9 · Cited by 2

Iron absorption in man - diet modification and fortification

Hoppe, M. (2008) · Gothenburg University Publications Electronic Archive (Gothenburg University) · Cited by 2

The Celtic coincidence — the frequency and clinical characterisation of hereditary haemochromatosis in patients with coeliac disease

Leyden, J. E., Kelleher, B., Ryan, E. M., Barrett, S., O’Keane, J. C., & Crowe, S. F. (2006) · Irish Journal of Medical Science (1971 -) · doi:10.1007/bf03168997 · Cited by 2

Dual diagnoses of hereditary hyperferritinaemia-cataract syndrome and hereditary haemochromatosis

Hughes, M., & Vosylius, P. (2006) · Clinical & Laboratory Haematology · doi:10.1111/j.1365-2257.2006.00824.x · Cited by 2

Hemochromatosis in a young female: The picture continues to broaden

Steiner, M., Meier, P., & Schuff‐Werner, P. (2005) · International Journal of Cardiology · doi:10.1016/j.ijcard.2004.10.036 · Cited by 2

Cribado genético de la hemocromatosis hereditaria en España. Situación actual

Altés, A. (2005) · Medicina Clínica · doi:10.1157/13077152 · Cited by 2

Recent concepts in iron metabolism and HFE mutations

Powell, L. W. (2004) · Journal of Gastroenterology and Hepatology · doi:10.1111/j.1440-1746.2004.03683.x · Cited by 2

Relations entre surcharges en fer et insulinorésistance

Vantyghem, M., Girardot, C., Boulogne, A., & Wémeau, J.-L. (2005) · La Presse Médicale · doi:10.1016/s0755-4982(05)84197-1 · Cited by 2

Hemochromatosis and the heart—Heavier than iron?

Ker, J. (2013) · International Journal of Cardiology · doi:10.1016/j.ijcard.2013.11.024 · Cited by 2

The Role of Hepcidin in Regulation of Iron Balance in Bats

Stasiak, I. M. (2012) · The Atrium (University of Guelph) · Cited by 2

The Genetic Profiles of TIF1 and TIF2 Duplicate Genes

Venturi, V. (2012) · Open Access Victoria University of Wellington | Te Herenga Waka (Figshare) · doi:10.26686/wgtn.16999348.v1 · Cited by 1

Hepatic Fibrosis

Bataller, R. A., & Brenner, D. A. (2009) · Wiley eBooks · doi:10.1002/9780470747919.ch29 · Cited by 2

Diagnostico molecular del gen HFE de la hemocromatosis hereditaria

San-Miguel, A., Alonso, N., Calvo, B., Iglesias, R. G., Miguel, R. S., & Gil, F. J. M. (2008) · Gaceta Médica de Bilbao · doi:10.1016/s0304-4858(08)74619-5 · Cited by 1

The Central Role of BMP Signaling in Regulating Iron Homeostasis

Lin, H. Y.-F. (2017) · Springer eBooks · doi:10.1007/978-3-319-47507-3_15 · Cited by 1

Hemocromatosis: actualización clínica y diagnóstica

Arias-Agudelo, L. M., Mesa-Arango, J. A., Franco-Álzate, C., & Pacheco, V. S. (2023) · Medicina y Laboratorio · doi:10.36384/01232576.656 · Cited by 1

Modulation of hepcidin synthesis: the core link in the bi-directional relationship between iron and obesity

Rah, B., Rafiq, R., Sharafain, J., Muhammad, J. S., Taneera, J., & Hamad, M. A. (2025) · Reviews in Endocrine and Metabolic Disorders · doi:10.1007/s11154-025-09997-y · Cited by 4

Revisiting Congenital Atransferrinemia: A Rare but Treatable Cause of Pediatric Heart Failure

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Metabolism of Iron Ions and Its Role in Regulating the Functions of Immune System Cells

Orlova, E. G., & Gorbunova, O. L. (2026) · Journal of Evolutionary Biochemistry and Physiology · doi:10.1134/s0022093026020018 · Cited by 1

From the Cosmos to the Cell: The Central Role of Iron in the Chemistry and Evolution of Life

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Surgical pathology of the heart

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Storage and Deposition Diseases

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[Iron's ups and downs].

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Nuevos conceptos patogénicos sobre la hemocromatosis hereditaria

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Ferritin and increased vs upper reference interval tibc saturation to identify increased iron stores in African Americans

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The iron sensor: macrophage, hepatocyte, both?

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A Case Report of Neonatal Diabetes Due to Neonatal Hemochromatosis

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Métallation réversible d’un analogue bis-disulfure du site de liaison Cys*-X-Cys* de l’hepcidine : caractérisation structurale du complexe de cuivre associé

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A cautionary tale of a man with haemochromatosis, chronic kidney disease and anaemia referred for erythropoietin therapy

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Non HFE related hereditary haemochromatosis.

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Diagnostic Molecular Genetics

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Eisenquantifizierung mittels MRT bei Eisenüberladung

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Genetik metabolischer und viraler Lebererkrankungen

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Liver Biopsy Histopathology

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Iron Absorption

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Hepatobiliary MR Imaging in Children:

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Systemic Disease and the Skin

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Laboratory diagnostics of iron overload

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Molecular Diagnosis of Genetic Diseases

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Hemochromatosis

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Nonneoplastic Hepatobiliary Disease

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Klinische genetica

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Erhöhte Leberwerte - was nun?

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Hereditary hemochromatosis with homozygous C282Y HFE mutation: possible clinical model to assess effects of elevated reactive oxygen species on the development of cardiovascular disease

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A Rare Case of Heterozygous C282Y Mutation Causing Hereditary Hemochromatosis With Acute Pancreatitis

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Alcohol- and Low-Iron Induced Changes in Antioxidant and Energy Metabolism Associated with Protein Lys Acetylation

Thornton, J. A., Koc, Z. C., Sollars, V. E., Valentovic, M. A., Denvir, J., Wilkinson, J., & Koc, E. C. (2024) · International Journal of Molecular Sciences · doi:10.3390/ijms25158344 · Cited by 2

Functionalization of a Rhodamine‐B Based Chemosensor onto Surfaces of Fe3O4, SBA‐15 and H2Ti3O7 Support Substrates for Selective Fe3+ Ion Detection

Mallick, D., Chatterjee, S., Mohapatra, M., & Bag, B. (2025) · European Journal of Inorganic Chemistry · doi:10.1002/ejic.202400728 · Cited by 1

Iron hypothesis of cardiovascular disease: still controversial.

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Classical and atypical HFE hemochromatosis

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Role of Iron Metabolism Genetic Determinants in Response to Chelation Therapy in a Cohort of β-Thalassemia and Sickle Cell Syndromes Italian Patients

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A 42-year-old man with elevated ferritin

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Special Issue: Clinical Applications of Therapeutic Apheresis: An Evidence Based Approach. 7thEdition

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.21474 · Cited by 1

Cirrhosis and portal hypertension

Brunt, E. M., & Carpenter, D. H. (2017) · Elsevier eBooks · doi:10.1016/b978-0-323-34062-5.00076-5 · Cited by 1

Hepatic Iron Overload

Patton, H. M., Mazhar, S. M., Peterson, M. R., Hanna, R. F., Ganesan, K., & Sirlin, C. B. (2011) · Elsevier eBooks · doi:10.1016/b978-1-4160-5449-8.00067-6 · Cited by 1

Trastornos del metabolismo del hierro y del cobre. Hemocromatosis y enfermedad de Wilson

Latorre, J. M. M., García-Díaz, J. D. D., Fernández, D. C., & Parra, A. R. V. (2016) · Medicine - Programa de Formación Médica Continuada Acreditado · doi:10.1016/j.med.2016.09.027 · Cited by 1

Hemochromatosis

Cunnane, G. (2016) · Elsevier eBooks · doi:10.1016/b978-0-323-31696-5.00118-2 · Cited by 1

An unusual presentation of seborrheic keratoses in a man with hereditary hemochromatosis

Loh, T. Y., & Cohen, P. R. (2017) · Dermatology Online Journal · doi:10.5070/d3234034630 · Cited by 1

Nonneoplastic Hepatobiliary Disease

Nakanishi, Y., & Saxena, R. (2016) · Springer eBooks · doi:10.1007/978-3-319-23380-2_44 · Cited by 1

Hereditary hemochromatosis: study of laboratory alterations related to polymorphism

Castilhos, A. D. C., Canci, B. T., Alves, M. K., & Goulart, K. O. B. (2017) · Jornal Brasileiro de Patologia e Medicina Laboratorial · doi:10.5935/1676-2444.20170035 · Cited by 1

A Rare Case Of a 2‐year‐old Boy With Alagille Syndrome and Type 3 Hereditary Hemochromatosis With TFR2 Mutation

Khayat, A. A., Suchi, M., & Vitola, B. E. (2018) · Journal of Pediatric Gastroenterology and Nutrition · doi:10.1097/mpg.0000000000002078 · Cited by 1

Asthma and hyperbilirubinemia: a new aspect to analyze?

Wasilewska, E., Kaczorowska-Hać, B., Burzyńska, B., Małgorzewicz, S., & Jassem, E. (2019) · Advances in Dermatology and Allergology · doi:10.5114/ada.2019.89511 · Cited by 1

Hematopoietic Abnormalities and Hemostasis

Saab, S. (2012) · Elsevier eBooks · doi:10.1016/b978-1-4377-0881-3.00024-3 · Cited by 1

Antioxidant and chelator cocktails to prevent oxidative stress under iron-overload conditions

Kumfu, S., Chattipakorn, S. C., & Chattipakorn, N. (2020) · Elsevier eBooks · doi:10.1016/b978-0-12-815972-9.00011-1 · Cited by 1

Transforming a clinical fluorescent dye to sense and treat iron overload disorders: a new reverse translational approach in precision medicine

Wang, J., Liu, G., & Wáng, Y. X. J. (2022) · Quantitative Imaging in Medicine and Surgery · doi:10.21037/qims-2022-01 · Cited by 1

Disturbances of Pigmentation

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Cardiomyopathies

d’Amati, G., & Giordano, C. (2022) · Elsevier eBooks · doi:10.1016/b978-0-12-822224-9.00014-1 · Cited by 1

糖尿病，下垂体性性腺機能低下症，肝線維化を呈した新規TfR2遺伝子変異による原発性へモクロマ卜ーシス（HH Type 3）の1例

健一, 土., 種田紳二, 和史, 三., 祐子, 秋., 坂東秀訓, 誠也, 萩., 克俊, 小., 服部, 亜., 巽, 康., 久男, 林., et al. (2010) · 糖尿病 · doi:10.11213/tonyobyo.53.247 · Cited by 1

Homozygosity For The C282Y Substitution In The HFE Gene: The Incomplete Penetrance And Variable Expressivity

Ekanayake, S., Roddick, C., Khanbhai, M., & Powell, L. W. (2015) · EMJ Hepatology · doi:10.33590/emjhepatol/10312409 · Cited by 1

Disorders of Iron Overload

Pietrangelo, A., & Torbenson, M. S. (2023) · Elsevier eBooks · doi:10.1016/b978-0-7020-8228-3.00004-1 · Cited by 1

Heavy Metals in Female Adolescents

Yunusa, I. U., Ibrahim, M., Yakasai, H. A., Ahmad, I., Odo, C. E., Gidado, Z. M., Rabiu, Z., Kabir, N., & Ezeanyika, L. U. S. (2015) · International Journal of Public Health Research · Cited by 1

Prevalência das mutações C282y e H63D no gene da hemocromatose hereditária (HFE) em pacientes com diabetes melito tipo 2 e a sua relação com as complicações crônicas

Colli, M. L. (2007) · Americanae (AECID Library) · Cited by 1

Iron Overload States

Adams, P. C., & Zoller, H. (2018) · Wiley eBooks · doi:10.1002/9781119237662.ch26 · Cited by 1

Arvelig hemokromatose - nytten av screening

Åsberg, A. (2009) · Norsk Epidemiologi · doi:10.5324/nje.v16i1.201 · Cited by 1

L’hepcidine :un nouveau regard sur le métabolisme du fer

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