hemochromatosis

Summary

Summary: A disorder due to the deposition of hemosiderin in the parenchymal cells, causing tissue damage and dysfunction of the liver, pancreas, heart, and pituitary. Full development of the disease in women is restricted by menstruation, pregnancy, and lower dietary intake of iron. Acquired hemochromatosis may be the result of blood transfusions, excessive dietary iron, or secondary to other disease. Idiopathic or genetic hemochromatosis is an autosomal recessive disorder of metabolism associated with a gene tightly linked to the A locus of the HLA complex on chromosome 6. (From Dorland, 27th ed)

Top Publications

  1. ncbi Complete characterization of the 3' region of the human and mouse hereditary hemochromatosis HFE gene and detection of novel splicing forms
    M Sanchez
    Human Genome Laboratory, Faculty of Medicine, University of Barcelona, Casanova 143, Barcelona, 08036, Spain
    Blood Cells Mol Dis 27:35-43. 2001
  2. ncbi A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis
    J N Feder
    Mercator Genetics, Inc, Menlo Park, California 94025, USA
    Nat Genet 13:399-408. 1996
  3. pmc Hereditary hemochromatosis and transferrin receptor 2
    Juxing Chen
    Department of Cell and Developmental Biology L215, Oregon Health and Science University, 3181 SW Sam Jackson Park Rd, Portland, OR 97239, USA
    Biochim Biophys Acta 1820:256-63. 2012
  4. ncbi Hereditary hemochromatosis: pathogenesis, diagnosis, and treatment
    Antonello Pietrangelo
    2nd Division of Internal Medicine and Centre for Hemochromatosis, University Hospital of Modena, Modena, Italy
    Gastroenterology 139:393-408, 408.e1-2. 2010
  5. pmc The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding
    J N Feder
    Progenitor, Inc formerly Mercator Genetics, Inc, 4040 Campbell Avenue, Menlo Park, CA 94025, USA
    Proc Natl Acad Sci U S A 95:1472-7. 1998
  6. ncbi Lipid peroxidation-induced etheno-DNA adducts in the liver of patients with the genetic metal storage disorders Wilson's disease and primary hemochromatosis
    J Nair
    Division of Toxicology and Cancer Risk Factors, Deutsches Krebsforschungszentrum, Heidelberg, Germany
    Cancer Epidemiol Biomarkers Prev 7:435-40. 1998
  7. pmc Minihepcidins prevent iron overload in a hepcidin-deficient mouse model of severe hemochromatosis
    Emilio Ramos
    Department of Chemistry and Biochemistry, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095 1690, USA
    Blood 120:3829-36. 2012
  8. ncbi Factors influencing disease phenotype and penetrance in HFE haemochromatosis
    J Rochette
    Universite de Picardie Jules Verne, UFR de Medecine, INSERM UMR, Amiens, France
    Hum Genet 128:233-48. 2010
  9. pmc Bone morphogenetic protein signaling is impaired in an HFE knockout mouse model of hemochromatosis
    Elena Corradini
    Division of Nephrology, Center for Systems Biology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA
    Gastroenterology 137:1489-97. 2009
  10. ncbi Hemochromatosis gene mutations, body iron stores, dietary iron, and risk of colorectal adenoma in women
    Andrew T Chan
    Gastrointestinal Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA
    J Natl Cancer Inst 97:917-26. 2005

Detail Information

Publications321 found, 100 shown here

  1. ncbi Complete characterization of the 3' region of the human and mouse hereditary hemochromatosis HFE gene and detection of novel splicing forms
    M Sanchez
    Human Genome Laboratory, Faculty of Medicine, University of Barcelona, Casanova 143, Barcelona, 08036, Spain
    Blood Cells Mol Dis 27:35-43. 2001
    The human HFE gene was identified in 1996 as the gene whose mutations are responsible for hereditary hemochromatosis in most patients. Expression analysis by Northern blot indicated that the gene was approximately 4.1 kb in length...
  2. ncbi A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis
    J N Feder
    Mercator Genetics, Inc, Menlo Park, California 94025, USA
    Nat Genet 13:399-408. 1996
    ..A role of this gene in haemochromatosis is supported by the frequency and nature of the major mutation and prior studies implicating MHC class I-like proteins in iron metabolism...
  3. pmc Hereditary hemochromatosis and transferrin receptor 2
    Juxing Chen
    Department of Cell and Developmental Biology L215, Oregon Health and Science University, 3181 SW Sam Jackson Park Rd, Portland, OR 97239, USA
    Biochim Biophys Acta 1820:256-63. 2012
    ..The identification of the mutations that cause the iron overload disease, hereditary hemochromatosis (HH), or iron-refractory iron-deficiency anemia has revealed many of the proteins used to regulate iron uptake...
  4. ncbi Hereditary hemochromatosis: pathogenesis, diagnosis, and treatment
    Antonello Pietrangelo
    2nd Division of Internal Medicine and Centre for Hemochromatosis, University Hospital of Modena, Modena, Italy
    Gastroenterology 139:393-408, 408.e1-2. 2010
    In the late 1800s, hemochromatosis was considered an odd autoptic finding...
  5. pmc The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding
    J N Feder
    Progenitor, Inc formerly Mercator Genetics, Inc, 4040 Campbell Avenue, Menlo Park, CA 94025, USA
    Proc Natl Acad Sci U S A 95:1472-7. 1998
    We recently reported the positional cloning of a candidate gene for hereditary hemochromatosis called HFE...
  6. ncbi Lipid peroxidation-induced etheno-DNA adducts in the liver of patients with the genetic metal storage disorders Wilson's disease and primary hemochromatosis
    J Nair
    Division of Toxicology and Cancer Risk Factors, Deutsches Krebsforschungszentrum, Heidelberg, Germany
    Cancer Epidemiol Biomarkers Prev 7:435-40. 1998
    ..dC) was measured in liver DNA from normal subjects and from patients with Wilson's disease (WD) and primary hemochromatosis. The mean epsilon dA and epsilon dC levels per 10(9) parent nucleotides in normal liver were 19.3 +/- 4...
  7. pmc Minihepcidins prevent iron overload in a hepcidin-deficient mouse model of severe hemochromatosis
    Emilio Ramos
    Department of Chemistry and Biochemistry, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095 1690, USA
    Blood 120:3829-36. 2012
    ..iron absorption and its tissue distribution, is the cause of iron overload in nearly all forms of hereditary hemochromatosis and in untransfused iron-loading anemias...
  8. ncbi Factors influencing disease phenotype and penetrance in HFE haemochromatosis
    J Rochette
    Universite de Picardie Jules Verne, UFR de Medecine, INSERM UMR, Amiens, France
    Hum Genet 128:233-48. 2010
    ..Consequently, understanding its regulation is the key. We conclude that the main goal now is to identify important modifiers that have a significant and unambiguous effect on iron storage...
  9. pmc Bone morphogenetic protein signaling is impaired in an HFE knockout mouse model of hemochromatosis
    Elena Corradini
    Division of Nephrology, Center for Systems Biology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA
    Gastroenterology 137:1489-97. 2009
    Mutations in HFE are the most common cause of the iron-overload disorder hereditary hemochromatosis. Levels of the main iron regulatory hormone, hepcidin, are inappropriately low in hereditary hemochromatosis mouse models and patients ..
  10. ncbi Hemochromatosis gene mutations, body iron stores, dietary iron, and risk of colorectal adenoma in women
    Andrew T Chan
    Gastrointestinal Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA
    J Natl Cancer Inst 97:917-26. 2005
    ..We assessed dietary iron intake and genetic and biochemical markers of iron status in a prospective, nested case-control study of women enrolled in the Nurses' Health Study...
  11. ncbi Targeted disruption of the hepcidin 1 gene results in severe hemochromatosis
    Jeanne Claire Lesbordes-Brion
    Institut Cochin, Département de génétique, Developpement et Pathologie Moleculaire, Institut National de la Sante et de la Recherche Medicale U567, Paris, France
    Blood 108:1402-5. 2006
    ..Confirming our prior results, Hepc1(-/-) mice developed early and severe multivisceral iron overload, with sparing of the spleen macrophages, and demonstrated increased serum iron and ferritin levels as compared with their controls...
  12. ncbi Hemochromatosis and iron-overload screening in a racially diverse population
    Paul C Adams
    Department of Medicine, London Health Sciences Centre, London, Ont, Canada
    N Engl J Med 352:1769-78. 2005
    Iron overload and hemochromatosis are common, treatable conditions. HFE genotypes, levels of serum ferritin, transferrin saturation values, and self-reported medical history were studied in a multiethnic primary care population.
  13. pmc Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels
    Beben Benyamin
    Queensland Institute of Medical Research, Brisbane 4029, Australia
    Am J Hum Genet 84:60-5. 2009
    ..g., hemochromatosis) and deficiency (e.g., anemia) conditions...
  14. ncbi Tumor necrosis factor alpha promoter polymorphisms influence the phenotypic expression of hereditary hemochromatosis
    S Fargion
    Dipartimento di Medicina Interna, Universita di Milano, Ospedale Maggiore IRCCS, Pad Granelli, Via F Sforza 35, 20122 Milan, Italy
    Blood 97:3707-12. 2001
    Severe iron overload usually develops in patients with hereditary hemochromatosis (HHC), but variability in the phenotypic expression of the disease has been reported...
  15. ncbi Hereditary hemochromatosis--a new look at an old disease
    Antonello Pietrangelo
    Center for Hemochromatosis and Hereditary Liver Diseases, Department of Internal Medicine, University of Modena and Reggio Emilia Policlinico, Modena, Italy
    N Engl J Med 350:2383-97. 2004
  16. ncbi Comparison of the interactions of transferrin receptor and transferrin receptor 2 with transferrin and the hereditary hemochromatosis protein HFE
    A P West
    Division of Biology and Howard Hughes Medical Institute, California Institute of Technology, Pasadena, California 91125, USA
    J Biol Chem 275:38135-8. 2000
    ..with two proteins important for iron metabolism, transferrin (Tf) and HFE, the protein mutated in hereditary hemochromatosis. A second receptor for Tf, TfR2, was recently identified and found to be functional for iron uptake in ..
  17. ncbi The molecular pathogenesis of hereditary hemochromatosis
    Jodie L Babitt
    Program in Membrane Biology, Division of Nephrology, Center for Systems Biology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA
    Semin Liver Dis 31:280-92. 2011
    Hereditary hemochromatosis is a genetic disorder of iron overload. Over the past 15 years, significant advances have been made in understanding the molecular pathogenesis of this disorder...
  18. pmc Iron uptake from plasma transferrin by a transferrin receptor 2 mutant mouse model of haemochromatosis
    Anita C G Chua
    School of Medicine and Pharmacology, University of Western Australia, Fremantle Hospital, Fremantle 6959, Western Australia, Australia
    J Hepatol 52:425-31. 2010
    ..TFR2 has been shown to mediate iron transport in vitro and regulate iron homeostasis. The aim of this study was to determine the role of Tfr2 in iron transport in vivo using a Tfr2 mutant mouse...
  19. ncbi Mutations in the HFE, TFR2, and SLC40A1 genes in patients with hemochromatosis
    Alejandro Del-Castillo-Rueda
    Unidad de Ferropatología, Departamento de Medicina Interna, Instituto de Investigación Sanitaria del Hospital General Universitario Gregorio Marañón, Madrid, Spain
    Gene 508:15-20. 2012
    Hereditary hemochromatosis causes iron overload and is associated with a variety of genetic and phenotypic conditions. Early diagnosis is important so that effective treatment can be administered and the risk of tissue damage avoided...
  20. ncbi The hemochromatosis founder mutation in HLA-H disrupts beta2-microglobulin interaction and cell surface expression
    J N Feder
    Mercator Genetics, Inc, Menlo Park, California 94025, USA
    J Biol Chem 272:14025-8. 1997
    We recently reported the positional cloning of a candidate gene for hereditary hemochromatosis (HH), called HLA-H, which is a novel member of the major histocompatibility complex class I family...
  21. ncbi The hemochromatosis proteins HFE, TfR2, and HJV form a membrane-associated protein complex for hepcidin regulation
    Flavia D'Alessio
    University of Heidelberg, Department of Pediatric Oncology, Hematology and Immunology, Heidelberg, Germany
    J Hepatol 57:1052-60. 2012
    The hereditary hemochromatosis-associated membrane proteins HFE, TfR2, and HJV are required for adequate hepatic expression of the iron hormone hepcidin...
  22. ncbi A population-based study of the biochemical and clinical expression of the H63D hemochromatosis mutation
    Peter A Gochee
    Queensland Institute of Medical Research and the University of Queensland, Brisbane, Western Australia
    Gastroenterology 122:646-51. 2002
    Two major mutations are defined within the hemochromatosis gene, HFE. Although the effects of the C282Y mutation have been well characterized, the effects of the H63D mutation remain unclear...
  23. ncbi The CD8+ T-lymphocyte profile as a modifier of iron overload in HFE hemochromatosis: an update of clinical and immunological data from 70 C282Y homozygous subjects
    Eugenia Cruz
    Clinical Hematology, Santo Antonio General Hospital, Porto, Portugal
    Blood Cells Mol Dis 37:33-9. 2006
    Hereditary hemochromatosis (HH) is a clinically heterogeneous disease...
  24. ncbi Genetic mechanisms and modifying factors in hereditary hemochromatosis
    Gunter Weiss
    Department of Internal Medicine I, Clinical Immunology and Infectious Diseases, Medical University of Innsbruck, Anichstrasse 35, A 6020 Innsbruck, Austria
    Nat Rev Gastroenterol Hepatol 7:50-8. 2010
    ..Patients with hereditary hemochromatosis absorb too much iron from the diet, which accumulates over time within parenchymal cells...
  25. ncbi The C282Y mutation causing hereditary hemochromatosis does not produce a null allele
    J E Levy
    Division of Hematology Oncology, Children s Hospital, Howard Hughes Medical Institute, Boston, MA, USA
    Blood 94:9-11. 1999
    Targeted mutagenesis was used to produce two mutations in the murine hemochromatosis gene (Hfe) locus. The first mutation deletes a large portion of the coding sequence, generating a null allele...
  26. ncbi Oxidative stress, beta-cell apoptosis, and decreased insulin secretory capacity in mouse models of hemochromatosis
    Robert C Cooksey
    Division of Endocrinology, University of Utah School of Medicine, 30 North 2030 East, Salt Lake City, Utah 84132
    Endocrinology 145:5305-12. 2004
    The pathogenesis of diabetes associated with hemochromatosis is not known. We therefore examined glucose homeostasis and beta-cell function in mouse models of hemochromatosis...
  27. pmc Ferroportin disease: a systematic meta-analysis of clinical and molecular findings
    Roman Mayr
    Department of Medicine II, Gastroenterology and Hepatology, Medical University of Innsbruck, Innsbruck, Austria
    J Hepatol 53:941-9. 2010
    ..The aim of the analysis is to determine the penetrance of SLC40A1 mutations and to evaluate in silico tools to predict the functional impairment of ferroportin mutations as an alternative to in vitro studies...
  28. pmc Iron-mediated inhibition of mitochondrial manganese uptake mediates mitochondrial dysfunction in a mouse model of hemochromatosis
    Hani A Jouihan
    Department of Medicine, University of Utah School of Medicine, Salt Lake City, Utah, USA
    Mol Med 14:98-108. 2008
    Previous phenotyping of glucose homeostasis and insulin secretion in a mouse model of hereditary hemochromatosis (Hfe(-/-)) and iron overload suggested mitochondrial dysfunction...
  29. ncbi Hemochromatosis (HFE) gene mutations and peripheral neuropathy during antiretroviral therapy
    Asha R Kallianpur
    Department of Medicine, Divisions of General Internal Medicine and Public Health, Nashville, TN, USA
    AIDS 20:1503-13. 2006
    ..Since iron deficiency is associated with some types of PN, and iron is essential for mitochondrial function, we tested the hypothesis that hemochromatosis (HFE) gene mutations influence susceptibility to NRTI-induced PN.
  30. ncbi Screening for hereditary hemochromatosis: a systematic review for the U.S. Preventive Services Task Force
    Evelyn P Whitlock
    Oregon Evidence Based Practice Center, Center for Health Research, Kaiser Permanente, Portland, Oregon 97227 1110, USA
    Ann Intern Med 145:209-23. 2006
    The U.S. Preventive Services Task Force (USPSTF) has not previously considered screening for hereditary hemochromatosis for a recommendation as a clinical preventive service for primary care clinicians.
  31. pmc Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene
    G Montosi
    Department of Internal Medicine, University of Modena, Modena, Italy
    J Clin Invest 108:619-23. 2001
    b>Hemochromatosis is a progressive iron overload disorder that is prevalent among individuals of European descent...
  32. pmc HIV-1 Nef down-regulates the hemochromatosis protein HFE, manipulating cellular iron homeostasis
    Hal Drakesmith
    Molecular Immunology Group and Medical Research Council Human Immunology Unit, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford OX3 9DS, United Kingdom
    Proc Natl Acad Sci U S A 102:11017-22. 2005
    ..MHC 1b protein HFE, which regulates iron homeostasis and is mutated in the iron-overloading disorder hemochromatosis. In model cell lines, Nef reroutes HFE to a perinuclear structure that overlaps the trans-Golgi network, ..
  33. pmc Hereditary hemochromatosis: effects of C282Y and H63D mutations on association with beta2-microglobulin, intracellular processing, and cell surface expression of the HFE protein in COS-7 cells
    A Waheed
    Edward A Doisy Department of Biochemistry and Molecular Biology, Saint Louis University School of Medicine, St Louis, MO 63104, USA
    Proc Natl Acad Sci U S A 94:12384-9. 1997
    Hereditary hemochromatosis (HH) is the most common autosomal recessive disorder known in humans...
  34. ncbi HFE-associated hereditary hemochromatosis
    Jacob Alexander
    Department of Medicine, University of Washington, Seattle, USA
    Genet Med 11:307-13. 2009
    ..C282Y mutation in the HFE gene is highly prevalent, and HFE-associated hereditary hemochromatosis is the most common type of inherited iron overload disorder...
  35. ncbi Crystal structure of the hereditary haemochromatosis protein HFE complexed with transferrin receptor
    M J Bennett
    Division of Biology, California Institute of Technology, Pasadena 91125, USA
    Nature 403:46-53. 2000
    ..The HFE-TfR complex suggests a binding site for transferrin on TfR and sheds light upon the function of HFE in regulating iron homeostasis...
  36. ncbi Geography of HFE C282Y and H63D mutations
    A T Merryweather-Clarke
    MRC Molecular Haematology Unit, Institute of Molecular Medicine, Headington, Oxford, UK
    Genet Test 4:183-98. 2000
    Hereditary hemochromatosis (HH) is a common autosomal recessive disorder causing inappropriate dietary iron absorption that affects North Europeans...
  37. ncbi Hepcidin is decreased in TFR2 hemochromatosis
    Elizabeta Nemeth
    Department of Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA
    Blood 105:1803-6. 2005
    ..Recent evidence indicates that certain forms of hereditary hemochromatosis are caused by hepcidin deficiency...
  38. pmc Iron overload and diabetes risk: a shift from glucose to Fatty Acid oxidation and increased hepatic glucose production in a mouse model of hereditary hemochromatosis
    Jingyu Huang
    Departments of Medicine and Biochemistry, University of Utah School of Medicine, Salt Lake City, USA
    Diabetes 60:80-7. 2011
    ..We previously published that mice and humans with a form of hereditary iron overload, hemochromatosis, exhibit loss of β-cell mass...
  39. pmc HFE gene knockout produces mouse model of hereditary hemochromatosis
    X Y Zhou
    Edward A Doisy Department of Biochemistry and Molecular Biology, St Louis University School of Medicine, 1402 South Grand Boulevard, St Louis, MO 63104, USA
    Proc Natl Acad Sci U S A 95:2492-7. 1998
    Hereditary hemochromatosis (HH) is a common autosomal recessive disease characterized by increased iron absorption and progressive iron storage that results in damage to major organs in the body...
  40. ncbi Hemochromatosis: an endocrine liver disease
    Antonello Pietrangelo
    Center for Hemochromatosis, Department of Internal Medicine, University of Modena and Reggio Emilia, Policlinico, Modena, Italy
    Hepatology 46:1291-301. 2007
    This review acknowledges the recent and dramatic advancement in the field of hemochromatosis and highlights the surprising analogies with a prototypic endocrine disease, diabetes...
  41. ncbi Mass spectrometry-based hepcidin measurements in serum and urine: analytical aspects and clinical implications
    Erwin H J M Kemna
    Department of Clinical Chemistry, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
    Clin Chem 53:620-8. 2007
    ..Recent reports on the measurement of urine and serum hepcidin by surface-enhanced laser-desorption/ionization time-of-flight mass spectrometry (SELDI-TOF MS) necessitate analytical and clinical evaluation of MS-based methodologies...
  42. ncbi Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis
    George Papanikolaou
    First Department of Internal Medicine, National and Kapodistrian University of Athens, School of Medicine, Laikon General Hospital, Athens 11527, Greece
    Nat Genet 36:77-82. 2004
    Juvenile hemochromatosis is an early-onset autosomal recessive disorder of iron overload resulting in cardiomyopathy, diabetes and hypogonadism that presents in the teens and early 20s (refs. 1,2)...
  43. pmc Global prevalence of putative haemochromatosis mutations
    A T Merryweather-Clarke
    MRC Molecular, Haematology Unit, John Radcliffe Hospital, Headington, Oxford, UK
    J Med Genet 34:275-8. 1997
    ..The H63D polymorphism is more widely distributed and its connection with haemochromatosis remains unclear...
  44. pmc Association between hemochromatosis genotype and lead exposure among elderly men: the normative aging study
    Robert O Wright
    Department of Pediatrics, Children s Hospital, Boston, Massachusetts 02115, USA
    Environ Health Perspect 112:746-50. 2004
    Because body iron burden is inversely associated with lead absorption, genes associated with hemochromatosis may modify body lead burden...
  45. pmc Hereditary hemochromatosis in the post-HFE era
    John K Olynyk
    School of Medicine and Pharmacology, University of Western Australia, Fremantle Hospital, Fremantle, Western Australia, Australia
    Hepatology 48:991-1001. 2008
    Following the discovery of the HFE gene in 1996 and its linkage to the iron overload disorder hereditary hemochromatosis (HH) there have been profound developments in our understanding of the pathogenesis of the biochemical and clinical ..
  46. pmc Association of the transferrin receptor in human placenta with HFE, the protein defective in hereditary hemochromatosis
    S Parkkila
    The Edward A Doisy Department of Biochemistry and Molecular Biology, Saint Louis University School of Medicine, MO 63104, USA
    Proc Natl Acad Sci U S A 94:13198-202. 1997
    Hereditary hemochromatosis (HH) is a common autosomal recessive disease associated with loss of regulation of dietary iron absorption and excessive iron deposition in major organs of the body...
  47. pmc Relationship between gene expression of duodenal iron transporters and iron stores in hemochromatosis subjects
    James E Nelson
    Benaroya Research Institute and Center for Liver Disease, Digestive Disease Institute, Virginia Mason Medical Center, Seattle, WA 98101, USA
    Am J Physiol Gastrointest Liver Physiol 298:G57-62. 2010
    ..we have compared relative gene expression of duodenal iron transporters among C282Y homozygotes [hereditary hemochromatosis (HH)] with and without iron overload...
  48. ncbi Understanding iron homeostasis through genetic analysis of hemochromatosis and related disorders
    Clara Camaschella
    Università Vita Salute and Istituto di Ricovero e Cura a Carratere Scientifico Ospedale San Raffaele, Via Olgettina, 60, 20132 Milano, Italy
    Blood 106:3710-7. 2005
    Genetic analysis of hemochromatosis has led to the discovery of a number of genes whose mutations disrupt iron homeostasis and lead to iron overload...
  49. ncbi Intraphagosomal Mycobacterium tuberculosis acquires iron from both extracellular transferrin and intracellular iron pools. Impact of interferon-gamma and hemochromatosis
    Oyebode Olakanmi
    Department of Internal Medicine and Research Service, Veteran Affairs Medical Center Iowa City, Iowa City, IA 52246, USA
    J Biol Chem 277:49727-34. 2002
    ..Macrophages from hereditary hemochromatosis patients have altered iron metabolism. Intracellular M...
  50. ncbi Toll-like receptor 4 gene polymorphism modulates phenotypic expression in patients with hereditary hemochromatosis
    Pierre Alexandre Krayenbuehl
    Division of Internal Medicine, Medical Clinic and Policlinic, University Hospital of Zurich, Zurich, Switzerland
    Eur J Gastroenterol Hepatol 22:835-41. 2010
    Clinical penetrance of hereditary hemochromatosis is highly variable...
  51. ncbi HFE, the MHC and hemochromatosis: paradigm for an extended function for MHC class I
    C S Cardoso
    Molecular Immunology, Institute for Molecular and Cell Biology, Oporto, Portugal Molecular Pathology and Immunology, Instituto de Ciencias Biomedicas Abel Salazar, Oporto, Portugal
    Tissue Antigens 61:263-75. 2003
    HFE was discovered as the hereditary hemochromatosis (HH) gene. It is located on chromosome 6 (6p21.3), 4Mb telomeric to the HLA-A locus, and its product has a structure similar to MHC class I molecules...
  52. ncbi Effect of the A736V TMPRSS6 polymorphism on the penetrance and clinical expression of hereditary hemochromatosis
    Luca Valenti
    Department of Internal Medicine, UO Medicina Interna 1B, Universita degli Studi, Fondazione Cà Granda IRCCS Ospedale Maggiore Policlinico, Milano, Italy
    J Hepatol 57:1319-25. 2012
    Hereditary hemochromatosis (HH) is most frequently related to homozygosity for the p.C282Y HFE mutation (C282Y(+/+)), hampering hepcidin induction in response to iron. The rs855791 polymorphism, encoding for the p...
  53. ncbi Mutations in HAMP and HJV genes and their impact on expression of clinical hemochromatosis in a cohort of 100 Spanish patients homozygous for the C282Y mutation of HFE gene
    Albert Altes
    Hematology Department, Althaia Foundation, Flor de Lis 33, 08242, Manresa, Spain
    Ann Hematol 88:951-5. 2009
    Most hereditary hemochromatosis (HH) patients are homozygous for the C282Y mutation of the HFE gene. Nevertheless, penetrance of the disease is very variable...
  54. ncbi Severity of iron overload of proband determines serum ferritin levels in families with HFE-related hemochromatosis: the HEmochromatosis FAmily Study
    Esther M G Jacobs
    Department of Clinical Chemistry 441, Radboud University Nijmegen Medical Center, P O Box 9101, 6500 HB Nijmegen, The Netherlands
    J Hepatol 50:174-83. 2009
    In families of patients with clinically detected hereditary hemochromatosis (HH) early screening has been suggested to prevent morbidity and mortality...
  55. pmc Transferrin receptor 2: continued expression in mouse liver in the face of iron overload and in hereditary hemochromatosis
    R E Fleming
    Department of Pediatrics, Saint Louis University School of Medicine, St Louis, MO 63104, USA
    Proc Natl Acad Sci U S A 97:2214-9. 2000
    Hereditary hemochromatosis (HH) is a common autosomal recessive disorder characterized by excess absorption of dietary iron and progressive iron deposition in several tissues, particularly liver...
  56. ncbi Gestational alloimmune liver disease and neonatal hemochromatosis
    Peter F Whitington
    Department of Pediatrics, Feinberg School of Medicine of Northwestern University, Chicago, IL 60611, USA
    Semin Liver Dis 32:325-32. 2012
    Neonatal hemochromatosis (NH) is a clinical syndrome consisting of liver disease and pathologic siderosis of various extrahepatic tissues...
  57. ncbi The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22
    C Camaschella
    Dipartimento di Scienze Cliniche e Biologiche, Universita di Torino, Azienda Ospedaliera S Luigi, Orbassano Torino, Italy
    Nat Genet 25:14-5. 2000
    ..7). Here we report a new locus (HFE3) on 7q22 and show that a homozygous nonsense mutation in the gene encoding transferrin receptor-2 (TFR2) is found in people with haemochromatosis that maps to HFE3...
  58. ncbi Hereditary hemochromatosis: mutations in genes involved in iron homeostasis in Brazilian patients
    Paulo C J L Santos
    Department of Clinical Chemistry and Toxicology, School of Pharmaceutical Sciences, University of Sao Paulo, SP, Brazil
    Blood Cells Mol Dis 46:302-7. 2011
    p.C282Y mutation and rare variants in the HFE gene have been associated with hereditary hemochromatosis (HH)...
  59. ncbi Transferrin receptor 1
    Philip Aisen
    Department of Physiology and Biophysics, Albert Einstein College of Medicine, 1300 Morris Park Avenue, Bronx, NY 10461, USA
    Int J Biochem Cell Biol 36:2137-43. 2004
    ..HFE, the protein incriminated in the pathogenesis of hereditary hemochromatosis, a disorder of progressive and toxic iron overload, competes with transferrin for binding to receptor, ..
  60. pmc Revaluation of clinical and histological criteria for diagnosis of dysmetabolic iron overload syndrome
    Alessia Riva
    Department of Clinical Medicine, University of Milano Bicocca, San Gerardo Hospital, Via Pergolesi 33, Monza 20052, Italy
    World J Gastroenterol 14:4745-52. 2008
    ..To re-evaluate the diagnostic criteria of insulin resistance hepatic iron overload based on clinical, biochemical and histopathological findings...
  61. ncbi Recurrent pregnancy-induced diabetes insipidus in a woman with hemochromatosis
    Robert Krysiak
    Department of Internal Medicine and Clinical Pharmacology, Medical University of Silesia, Katowice, Poland
    Endocr J 57:1023-8. 2010
    ..We describe here the case of transient diabetes insipidus in two subsequent pregnancies of a female with hemochromatosis. The first symptoms of this disease appeared for the first time at the beginning of the third trimester of ..
  62. ncbi Juvenile hemochromatosis caused by a novel combination of hemojuvelin G320V/R176C mutations in a 5-year old girl
    Patricia Aguilar-Martinez
    Haematologica 92:421-2. 2007
    ..was found to have a combination of a novel R176C mutation together with the G320V mutation in the juvenile hemochromatosis gene (HJV). The girl was also homozygous for the H63D mutation in HFE...
  63. ncbi Lack of clinical manifestation of hereditary haemochromatosis in South African patients with multiple sclerosis
    Maritha J Kotze
    Genecare Molecular Genetics Pty Ltd, Christiaan Barnard Memorial Hospital, 162 Longmarket Street, Cape Town, South Africa
    Metab Brain Dis 21:109-20. 2006
    ..Lack of clinical manifestation of HH without any signs of organ damage in the C282Y homozygous MS patients is in accordance with a role of iron dysregulation in the aetiology of MS...
  64. ncbi Molecular mechanisms regulating hepcidin revealed by hepcidin disorders
    Clara Camaschella
    Vita Salute University and Division of Genetics and Cell Biology, San Raffaele Scientific Institute, Milan, Italy
    ScientificWorldJournal 11:1357-66. 2011
    ..genetic diseases characterized by iron deficiency (iron-refractory iron-deficiency anemia) or iron overload (hemochromatosis)...
  65. ncbi Iron overload in adult Hfe-deficient mice independent of changes in the steady-state expression of the duodenal iron transporters DMT1 and Ireg1/ferroportin
    Thomas Herrmann
    Department of Internal Medicine IV, University of Heidelberg, Bergheimer Strasse 58, 69115 Heidelberg, Germany
    J Mol Med (Berl) 82:39-48. 2004
    Patients suffering from hereditary hemochromatosis (HH) show progressive iron overload as a consequence of increased duodenal iron absorption...
  66. ncbi Non-HFE hemochromatosis
    Antonello Pietrangelo
    Center for Hemochromatosis and Hereditary Liver Diseases, Department of Internal Medicine, University of Modena and Reggio Emilia, Policlinico, Modena, Italy
    Semin Liver Dis 25:450-60. 2005
    The term "non-HFE hemochromatosis" (non-HFE HC) refers to several phenotypically similar but genetically distinct forms of hereditary hemochromatosis affecting individuals without pathogenic mutations of HFE...
  67. ncbi An Hfe-dependent pathway mediates hyposideremia in response to lipopolysaccharide-induced inflammation in mice
    Cindy N Roy
    Children s Hospital, and Harvard Medical School, Boston, Massachusetts 02115, USA
    Nat Genet 36:481-5. 2004
    ..Mice with deficiencies in the hemochromatosis gene product, Hfe, mounted a general inflammatory response after injection of lipopolysaccharide but lacked ..
  68. ncbi Survival advantage of the hemochromatosis C282Y mutation
    Eugene D Weinberg
    Department of Biology, Indiana University, Bloomington 47405, USA
    Perspect Biol Med 51:98-102. 2008
    The hemochromatosis C282Y mutation is present in up to 12.5% of people in populations of northern and central European origin. The prevalence of this mutation suggests that it may confer some type of epidemiologic advantage...
  69. ncbi Current approach to hemochromatosis
    Pierre Brissot
    Liver Disease Unit, Liver Research Unit Inserm U 522, IFR 140, University of Rennes1, Hemochromatosis Reference Center, Laboratory of Molecular Genetics, University Hospital Pontchaillou, Rennes, France
    Blood Rev 22:195-210. 2008
    ..Five major categories are now established: HFE-related or type1 hemochromatosis, frequently found in Caucasians, and four rarer diseases which are type 2 (A and B) hemochromatosis (juvenile ..
  70. ncbi Hemojuvelin: the hepcidin story continues
    Jolanta Malyszko
    Department of Nephrology and Transplantology, Medical University, Białystok, Poland
    Kidney Blood Press Res 32:71-6. 2009
    Hemojuvelin (HJV) is a membrane protein that is responsible for the iron overload condition known as juvenile hemochromatosis. HJV, highly expressed in the liver, skeletal muscle and heart, seems to play a role in iron absorption and ..
  71. ncbi Hereditary hemochromatosis: laboratory evaluation
    Thomas P Moyer
    Department of Laboratory Medicine and Pathology, Division of Clinical Biochemistry and Immunology, Mayo Clinic, Rochester, MN 55905, United States
    Clin Chim Acta 412:1485-92. 2011
    The condition of hereditary hemochromatosis (HH) is caused by gene-dependent protein abnormalities involved in iron absorption, storage, or modulation of iron; these abnormalities result in iron overload...
  72. ncbi Mutations in the hemochromatosis gene (HFE) and multiple sclerosis
    Smiljana Ristic
    Department of Biology and Medical Genetics, School of Medicine, University of Rijeka, Brace Branchetta 20, 51000 Rijeka, Croatia
    Neurosci Lett 383:301-4. 2005
    ..However, we observed that MS patients carrying the mutant C282Y allele exhibited earlier onset of disease symptom relative to other genotypes, but it warrants further study in a larger series of MS patients...
  73. ncbi Genotyping of the hemochromatosis HFE p.H63D and p.C282Y mutations by high-resolution melting with the Rotor-Gene 6000® instrument
    Paulo Caleb Junior Lima Santos
    Laboratory of Genetics and Molecular Cardiology, Heart Institute InCor, University of Sao Paulo Medical School, SP, Brazil
    Clin Chem Lab Med 49:1633-6. 2011
    ..The genotyping of HFE p.C282Y and p.H63D mutations is one of the most requested molecular analyses in the laboratorial routine. In this scenario, the main aim was to develop a genotyping assay that has advantages compared to other methods...
  74. ncbi Hemochromatosis: diagnosis and management
    B R Bacon
    Division of Gastroenterology and Hepatology, Saint Louis University School of Medicine, St Louis, Missouri 63110 0250, USA
    Gastroenterology 120:718-25. 2001
    ..With the identification of the HFE gene, we are beginning to unravel many of the mysteries of both normal iron absorption and the disorder of iron metabolism found in patients with HH...
  75. ncbi Genetic abnormalities and juvenile hemochromatosis: mutations of the HJV gene encoding hemojuvelin
    Pauline L Lee
    The Scripps Research Institute, Department of Molecular and Experimental Medicine, 10550 N Torrey Pines Road, La Jolla, CA 92037, USA
    Blood 103:4669-71. 2004
    Juvenile hemochromatosis is an early-onset form of iron storage disease characterized by hypogonadotrophic hypogonadism and cardiomyopathy...
  76. ncbi Non-classical hereditary hemochromatosis in Portugal: novel mutations identified in iron metabolism-related genes
    Ana Isabel Mendes
    Human Genetics Centre, National Institute of Health Dr Ricardo Jorge, Lisbon, Portugal
    Ann Hematol 88:229-34. 2009
    The most frequent genotype associated with Hereditary hemochromatosis is the homozygosity for C282Y, a common HFE mutation...
  77. pmc Heritability of serum iron measures in the hemochromatosis and iron overload screening (HEIRS) family study
    Christine E McLaren
    Department of Epidemiology, University of California, Irvine, California 92697 7550, USA
    Am J Hematol 85:101-5. 2010
    ..The Hemochromatosis and Iron Overload Screening family study estimated heritability of serum iron measures...
  78. ncbi Hepcidin in human iron disorders: therapeutic implications
    Antonello Pietrangelo
    Centre for Hemochromatosis, Center for Advanced Research in Hepatology Mario Coppo, University Hospital of Modena, Modena, Via del Pozzo 71, 41100 Modena, Italy
    J Hepatol 54:173-81. 2011
    ....
  79. ncbi Unique genetic profile of hereditary hemochromatosis in Russians: high frequency of C282Y mutation in population, but not in patients
    Ekaterina S Potekhina
    Faculty of Fundamental Medicine, I M Lomonosov Moscow State University, Russia
    Blood Cells Mol Dis 35:182-8. 2005
    Hereditary hemochromatosis (HH) is a common cause of primary iron overload induced by genetic impairment of iron metabolism...
  80. pmc Selective modulation of TLR4-activated inflammatory responses by altered iron homeostasis in mice
    Lijian Wang
    Mucosal Immunology Laboratory, Massachusetts General Hospital, Charlestown, Massachusetts, USA
    J Clin Invest 119:3322-8. 2009
    Mice deficient in the hemochromatosis gene, Hfe, have attenuated inflammatory responses to Salmonella infection associated with decreased macrophage TNF-alpha and IL-6 biosynthesis after exposure to LPS...
  81. ncbi Cancer risk in patients with hereditary hemochromatosis and in their first-degree relatives
    Maria Elmberg
    Department of Gastroenterology and Hepatology, Karolinska Hospital, Stockholm, Sweden
    Gastroenterology 125:1733-41. 2003
    Iron overload may be carcinogenic. Patients with hereditary hemochromatosis (HH) are reportedly at a 20-200-fold risk of intrahepatic cancer, but the reported risks for nonhepatobiliary cancers are conflicting...
  82. ncbi Alternate splice variants of the hemochromatosis gene Hfe
    D A Rhodes
    Division of Immunology, Department of Pathology, University of Cambridge, Tennis Court Road, Cambridge CB2 1QP, UK
    Immunogenetics 49:357-9. 1999
  83. ncbi Effect of iron overload on glucose metabolism in patients with hereditary hemochromatosis
    Mensud Hatunic
    Metabolic Research Unit, St James s Hospital, Trinity College, Dublin, Ireland
    Metabolism 59:380-4. 2010
    Diabetes mellitus (DM) affects 30% to 60% of patients with hereditary hemochromatosis (HH). The underlying pathophysiology of DM in patients with hemochromatosis has not been fully elucidated...
  84. ncbi Hepatic iron overload in alcoholic end-stage liver disease is associated with iron deposition in other organs in the absence of HFE-1 hemochromatosis
    Sue C Eng
    Department of Medicine, University of Washington Medical Center Seattle, WA 98195, USA
    Liver Int 25:513-7. 2005
    End-stage cirrhosis in the absence of hereditary hemochromatosis (HHC) can be associated with moderate to marked hepatic iron overload, especially in liver disease as a result of alcohol and/or hepatitis C...
  85. ncbi Association of hemochromatosis with infectious diseases: expanding spectrum
    Fida A Khan
    Department of Medicine, Section of Infectious Diseases, Ohio Valley Medical Center, 2000 Eoff Street, Wheeling, WV 26003, USA
    Int J Infect Dis 11:482-7. 2007
    ..Several hypotheses exist to explain the association of hemochromatosis with infection...
  86. ncbi Hereditary hemochromatosis and diabetes mellitus: implications for clinical practice
    Kristina M Utzschneider
    Division of Metabolism, Endocrinology and Nutrition, Department of Medicine, VA Puget Sound Health Care System, Seattle, WA 98108, USA
    Nat Rev Endocrinol 6:26-33. 2010
    Hereditary hemochromatosis (HH) is a genetic condition that can lead to unregulated absorption of iron from the gut with resultant iron overload...
  87. pmc A novel association between a SNP in CYBRD1 and serum ferritin levels in a cohort study of HFE hereditary haemochromatosis
    Clare C Constantine
    Centre for MEGA Epidemiology, School of Population Health, University of Melbourne, Carlton, Victoria, Australia
    Br J Haematol 147:140-9. 2009
    ..that there are genetic modifiers of iron indices for HFE gene mutation carriers at risk of hereditary hemochromatosis. A random sample, stratified by HFE genotype, of 863 from a cohort of 31 192 people of northern European ..
  88. pmc A time course of hepcidin response to iron challenge in patients with HFE and TFR2 hemochromatosis
    Domenico Girelli
    Department of Medicine, University of Verona, Policlinico GB Rossi, 37134 Verona, Italy
    Haematologica 96:500-6. 2011
    Inadequate hepcidin production leads to iron overload in nearly all types of hemochromatosis. We explored the acute response of hepcidin to iron challenge in 25 patients with HFE-hemochromatosis, in two with TFR2-hemochromatosis and in ..
  89. pmc A mouse model of juvenile hemochromatosis
    Franklin W Huang
    Children s Hospital Boston, Dana Farber Cancer Institute, Harvard Medical School, Boston, Massachusetts 02115 5737, USA
    J Clin Invest 115:2187-91. 2005
    Hereditary hemochromatosis is an iron-overload disorder resulting from mutations in proteins presumed to be involved in the maintenance of iron homeostasis...
  90. ncbi Hereditary haemochromatosis
    J K Limdi
    Hope Hospital, Salford, Manchester, UK
    QJM 97:315-24. 2004
    ..We discuss the genetics, pathophysiology, clinical features, diagnosis and management of a condition that could easily present to a generalist, and is an important diagnosis not to miss...
  91. pmc Common variants in the BMP2, BMP4, and HJV genes of the hepcidin regulation pathway modulate HFE hemochromatosis penetrance
    Jacqueline Milet
    INSERM U535, Villejuif, France
    Am J Hum Genet 81:799-807. 2007
    Most cases of genetic hemochromatosis (GH) are associated with the HFE C282Y/C282Y (p.Cys282Tyr/p.Cys282Tyr) genotype in white populations. The symptoms expressed by C282Y homozygotes are extremely variable...
  92. pmc Targeted mutagenesis of the murine transferrin receptor-2 gene produces hemochromatosis
    Robert E Fleming
    Department of Pediatrics, Saint Louis University School of Medicine, MO 63104, USA
    Proc Natl Acad Sci U S A 99:10653-8. 2002
    Hereditary hemochromatosis (HH) is a common genetic disorder characterized by excess absorption of dietary iron and progressive iron deposition in several tissues, particularly liver...
  93. ncbi Molecular medicine and hemochromatosis: at the crossroads
    B R Bacon
    Department of Internal Medicine, Saint Louis University School of Medicine, St Louis, Missouri, USA
    Gastroenterology 116:193-207. 1999
  94. ncbi Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor
    J A Lebron
    Division of Biology, California Institute of Technology, Pasadena 91125, USA
    Cell 93:111-23. 1998
    HFE is an MHC-related protein that is mutated in the iron-overload disease hereditary hemochromatosis. HFE binds to transferrin receptor (TfR) and reduces its affinity for iron-loaded transferrin, implicating HFE in iron metabolism...
  95. ncbi Hfe acts in hepatocytes to prevent hemochromatosis
    Maja Vujic Spasic
    Department of Pediatric Oncology, Hematology and Immunology, University Hospital of Heidelberg, 69120 Heidelberg, Germany
    Cell Metab 7:173-8. 2008
    Hereditary hemochromatosis (HH) is a prevalent, potentially fatal disorder of iron metabolism hallmarked by intestinal hyperabsorption of iron, hyperferremia, and hepatic iron overload...
  96. ncbi Iron overload in the Asian community
    Chun Yu Lok
    Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, United Kingdom
    Blood 114:20-5. 2009
    Hereditary hemochromatosis is an iron overload disorder that can lead to the impairment of multiple organs and is caused by mutations in one or more different genes...
  97. ncbi The solution structure of human hepcidin, a peptide hormone with antimicrobial activity that is involved in iron uptake and hereditary hemochromatosis
    Howard N Hunter
    Department of Biological Sciences, University of Calgary, Calgary, Alberta T2N 1N4, Canada
    J Biol Chem 277:37597-603. 2002
    ..As such, it plays an important role in hereditary hemochromatosis, a serious iron overload disease...
  98. ncbi Hereditary hemochromatosis: genetic complexity and new diagnostic approaches
    Dorine W Swinkels
    Department of Clinical Chemistry, Radboud University Nijmegen Medical Centre, Nijmegen
    Clin Chem 52:950-68. 2006
    Since the discovery of the hemochromatosis gene (HFE) in 1996, several novel gene defects have been detected, explaining the mechanism and diversity of iron-overload diseases...
  99. pmc Ferroportin1 is required for normal iron cycling in zebrafish
    Paula G Fraenkel
    Division of Hematology Oncology, Children s Hospital, Karp Research Laboratories, Boston, Massachusetts 02115, USA
    J Clin Invest 115:1532-41. 2005
    ..helices 3 and 4 in the zebrafish anemia mutant weissherbst (weh(Tp85c-/-)) and in patients with type 4 hemochromatosis. To explore the effects of fpn1 mutation on blood development and iron homeostasis in the adult zebrafish, ..
  100. pmc Screening for hemochromatosis by measuring ferritin levels: a more effective approach
    Jill Waalen
    Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, CA 92037, USA
    Blood 111:3373-6. 2008
    Because the penetrance of HFE hemochromatosis is low, traditional population screening measuring the transferrin saturation is unlikely to be cost-effective because the majority of subjects detected neither have clinical disease nor are ..
  101. ncbi Clinically overt hereditary hemochromatosis in Denmark 1948-1985: epidemiology, factors of significance for long-term survival, and causes of death in 179 patients
    N Milman
    Department of Medicine, Naestved Hospital, 4700 Naestved, Denmark
    Ann Hematol 80:737-44. 2001
    The object was to analyze, in a nationwide survey, the incidence and course of hereditary hemochromatosis in relation to the degree of iron overload and the presence of organ damage...

Research Grants66

  1. Iron, Metabolic Regulation and Type 2 Diabetes Risk
    Donald A McClain; Fiscal Year: 2013
    ..This is true not only for well- described conditions of iron overload such as hereditary hemochromatosis (HH) but even for dietary iron excess resulting in serum ferritin concentrations within the higher ranges of "..
  2. Hepcidin-based screening for infantile iron deficiency
    Mark D Fleming; Fiscal Year: 2010
    ..underlie the vast majority of cases of the hereditary iron overload disorders collectively termed hereditary hemochromatosis. Recently, we identified biallelic mutations in the liver-specific transmembrane serine protease, TMPRSS6, in ..
  3. Ferritin: Protein/mRNA/DNA in Fe/O Regulation/Metabolism
    ELIZABETH C contact THEIL; Fiscal Year: 2010
    ..in ferritin can be translated to drug targeting, and for the linked peptide-chelator, to iron chelation in Sickle Cell Disease, Thalassemia, Hereditary Hemochromatosis, and to the emerging awareness of iron in malaria and diabetes.
  4. Beta 2-Microglobulin signaling and targeting in bone metastasis
    Leland W K Chung; Fiscal Year: 2013
    ..The hypothesis of this proposal is that anti-b2-M mAb interferes with HFE (a hereditary hemochromatosis associated gene)-TFRC (Transferrin Receptor)-TF (Transferrin) complex and iron transport, thus provokes ..
  5. Modifiers of hepcidin expression as new therapies for iron overload
    PAULA GOODMAN FRAENKEL; Fiscal Year: 2013
    ..syndromes remain important causes of heart and liver failure in patients with thalassemia or hereditary hemochromatosis, which are common genetic diseases worldwide...
  6. Iron Acquisition by Mycobacterium tuberculosis Within Phagocytes
    Bradley E Britigan; Fiscal Year: 2013
    ..Fe uptake from extracellular TF and LF may involve Fe moving into the cytoplasm. Some (e.g. hereditary hemochromatosis) conditions that lower intracellular Fe in macrophages, decrease M.tb Fe uptake...
  7. Heme trafficking and its impact on systemic iron homeostasis
    Janis L Abkowitz; Fiscal Year: 2010
    ..the body;and explore the implications of these findings in models of hemolysis, chronic inflammation, and hemochromatosis. Together these studies should demonstrate that the physiologic regulation of iron is more intricate and ..
  8. Study of the HFE Transferrin Receptor interaction in mammalian iron homeostasis
    Paul Schmidt; Fiscal Year: 2010
    The objective of this study is to elucidate the role of the hereditary hemochromatosis gene (HFE) - Transferrin receptor (TFR1) interaction in vivo...
  9. Heme trafficking and its impact on systemic iron homeostasis
    Janis L Abkowitz; Fiscal Year: 2013
    ..the body;and explore the implications of these findings in models of hemolysis, chronic inflammation, and hemochromatosis. Together these studies should demonstrate that the physiologic regulation of iron is more intricate and ..
  10. Regulation of an Iron Import Facilitator by Transcriptional Interference
    CAMILLE REYES NERY; Fiscal Year: 2010
    ..is evident at the organism level, where iron deficiency causes anemia, while an excess of iron results in hemochromatosis, both serious cardiovascular diseases...
  11. Molecular Mechanisms of Intestinal Metal Ion Transport During Iron Deficiency
    James F Collins; Fiscal Year: 2013
    ..g. in hereditary hemochromatosis) or deficiency (e.g. in anemia of chronic inflammation)...
  12. Hemochromatosis - Epidemiology and Molecular Mechanisms
    Pauline L Lee; Fiscal Year: 2010
    ..The major regulator of iron homeostasis is the 25 amino acid peptide hepcidin. Hemochromatosis caused by genetic mutations in HFE, TfR2 and HJV is due primarily to dysregulation of hepcidin transcription...
  13. Divalent metal-ion transporter DMT1 and its role in intestinal metal-ion uptake
    Bryan Mackenzie; Fiscal Year: 2012
    ..Rare mutations in DMT1 cause severe microcytic anemia. Conversely, dysregulation of DMT1 in hereditary hemochromatosis, the most common hereditary disease in Caucasians, results in toxic iron overload in vital organs...
  14. IRON AND METABOLISM: ALTERED FUEL OXIDATION AND MITOCHONDRIAL DYSFUNCTION
    Donald A McClain; Fiscal Year: 2013
    ..overload, mitochondrial dysfunction and oxidative stress play pathogenic roles in the diabetes of hereditary hemochromatosis (HH) and may also be factors in common type 2 diabetes...
  15. Serum Biomarkers Associated With Phenotypic Expression of Hemochromatosis.
    Kris Kowdley; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Hereditary hemochromatosis (HH) is an autosomal recessive disorder characterized by a progressive accumulation of hepatic iron and is one of the most common inherited diseases among Caucasians with ..
  16. Regulation of Iron Homeostasis by BMP Signaling
    Jodie L Babitt; Fiscal Year: 2013
    ..dysfunction, appears to be the common pathogenic mechanism underlying the iron overload disorder hereditary hemochromatosis due to mutations in the genes encoding hepcidin itself, the hemochromatosis protein HFE, transferrin receptor ..
  17. Retinal Iron Homeostasis in Health and Disease
    Vadivel Ganapathy; Fiscal Year: 2013
    ..hypothesis that retina is a target tissue for iron overload and iron-induced oxidative damage in hereditary hemochromatosis (HHC), the most prevalent genetic disease characterized by iron accumulation in systemic organs...
  18. Optimizing Tissue Iron Quantification at 3 Tesla
    John C Wood; Fiscal Year: 2013
    ..overload is a surprisingly common clinical complication, resulting from hyperabsorption, as in hereditary hemochromatosis and thalassemia intermedia, or from recurrent blood transfusions in patients with hemoglobinopathies or bone-..
  19. Hepcidin therapy for iron overload and hematologic disorders
    Stefano Rivella; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Iron overload is the main cause of morbidity and mortality in hereditary hemochromatosis, 2-thalassemia and various anemias that require chronic transfusions...
  20. Host iron availability in the pathogenesis of enteropathogenic Yersinia
    VICTORIA AUERBUCH STONE; Fiscal Year: 2013
    ..Mutations that predispose humans to one such iron overload disorder, hereditary hemochromatosis, are very common...
  21. Influence of HFE on metal pharmacokinetics and neurotoxicity
    Jonghan Kim; Fiscal Year: 2013
    ..The research has broad relevance to the management of HFE-associated hemochromatosis and iron-overload.
  22. Ferroportin and Iron Homeostasis
    Frank M Torti; Fiscal Year: 2013
    ..mutations in ferroportin and hepcidin lead to inappropriate dietary iron uptake and retention, and result in hemochromatosis, a disease of iron overload...
  23. Identification of Novel Genes That Modulate Systemic Iron Homeostasis
    KARIN ELISABETH FINBERG; Fiscal Year: 2013
    ..In congenital iron loading anemias and in forms of hereditary hemochromatosis, hepcidin levels are inappropriately low, allowing absorption of dietary iron to persist despite increased ..
  24. Studies on Serial Phlebotomy in Voluntary Blood Donors
    Stuart D Katz; Fiscal Year: 2013
    ..favorably impact the nation's blood supply, and could influence public policy decisions on screening for hemochromatosis (one of the most common genetic diseases in the US) and regulation of iron content in nutritional supplements ..
  25. Chemical Genetics of Iron Transport
    Marianne Wessling-Resnick; Fiscal Year: 2013
    ..Iron overload promoted by hereditary hemochromatosis is one of the most common genetic disorders in our population...
  26. Hepcidin Replacement Therapy for Iron Overload Disorders
    James W Larrick; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Iron-overload disorders, including hereditary hemochromatosis, are typically insidious, causing progressive and sometimes irreversible end-organ injury before clinical symptoms develop...
  27. Metalloreductases in Medicine
    Mark D Fleming; Fiscal Year: 2010
    ..The inherited iron overload disorders collectively known as hereditary hemochromatosis are similarly common;the prevalence of a single mutant allele, HFE<C282Y>, that confers a risk for iron ..
  28. Genetic Modifiers of Iron Status in Hemochromatosis HFE C282Y Homozygotes
    Gordon D McLaren; Fiscal Year: 2011
    ..States are at risk for development of iron overload, attributable primarily to the genetic disorder known as hemochromatosis (HH)...
  29. Structure and Function of Iron Regulatory Proteins
    KARL W VOLZ; Fiscal Year: 2010
    ..In addition, imbalances in iron metabolism such as hereditary hyperferritinemia and hemochromatosis can lead to a number of diseases in humans, including blindness, cirrhosis, cardiac disease, neurological ..
  30. FUNCTION OF THE HEMOCHROMATOSIS PROTEIN
    CAROLINE ENNS; Fiscal Year: 2013
    Hereditary Hemochromatosis (HH) is the most common potentially fatal inherited disorder in people of Northern European origin...
  31. Control of iron absorption by intestinal HIF2 in iron and hematological disorders
    Yatrik M Shah; Fiscal Year: 2013
    ..by applicant): Iron overload is the main cause of mortality and morbidity in patients with hereditary hemochromatosis and beta-thalassemia. There is a need for new approaches to prevent and treat these diseases...
  32. IRON CHELATORS PREDICATED ON DESFERRITHIOCIN
    RAYMOND JOSEPH BERGERON; Fiscal Year: 2013
    ..at greatest risk of iron-induced injury in patients with thalassemia major, sickle cell disease, hereditary hemochromatosis and other forms of iron overload...
  33. The Lysosomal-Mitochondrial Axis in Nonalcoholic Fatty Liver Disease
    Ariel Feldstein; Fiscal Year: 2011
    ..of other human liver diseases including chronic hepatitis C infection, alcoholic steatohepatitis and hemochromatosis, as well as other diseases such as type II diabetes and obesity associated heart disease the results of this ..
  34. Cross-talk between iron metabolism and intestinal inflammation
    BOBBY JOSEPH CHERAYIL; Fiscal Year: 2013
    ..Our preliminary studies with Hfe knock-out (KO) mice, a model of human type I hemochromatosis (HH), have revealed that the abnormal iron metabolism in these animals is associated with attenuated ..
  35. FACTORS REGULATING THE CELLULAR UPTAKE OF IRON
    Jerry Kaplan; Fiscal Year: 2013
    ..marker of iron overload disease, as there is a strong correlation with hepatic iron stores in hereditary hemochromatosis. We have determined the conditions that lead to ferritin secretion...
  36. BMP Signaling and Iron Metabolism
    Jodie L Babitt; Fiscal Year: 2010
    ..Hemojuvelin (HJV), was recently identified as the gene mutated in most cases of juvenile hemochromatosis, a severe disorder of iron overload...
  37. Mechanisms of Action of Hemojuvelin
    Herbert Y Lin; Fiscal Year: 2013
    ..Dysregulation of iron metabolism leads to common diseases such as hemochromatosis and anemia which affect several hundred million people worldwide...
  38. Serologic test for neonatal hemochromatosis in infants with acute liver failure
    PETER FRANK WHITINGTON; Fiscal Year: 2010
    ..Neonatal hemochromatosis (NH) is the leading diagnosed cause of liver failure in neonates in most series...
  39. Patient Oriented Research & Mentoring in liver diseases
    Kris Kowdley; Fiscal Year: 2010
    ..Hereditary hemochromatosis encompasses a range of genetic iron overload disorders that involve mutations in a number of genes known to ..
  40. Structural and Functional Studies of Iron Transport and Homeostasis
    CHARLES MARTIN LAWRENCE; Fiscal Year: 2012
    ..the world are iron deficient and genetic variants conferring susceptibility to iron overload (hereditary hemochromatosis) are highly prevalent in some populations...
  41. Regulation and function of the transferrin receptor 2
    CAROLINE ENNS; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Hereditary hemochromatosis (HH) is the most common inherited disorder in people of Northern European origin...
  42. HFE: A Genetic Determinant of Olfactory Mn Absorption and Toxicity
    Marianne Wessling Resnick; Fiscal Year: 2010
    Genetic variants of the HFE gene are the leading cause of adult onset hereditary hemochromatosis (HH), the most common Mendelian genetic disease in the North American Caucasian population...
  43. Bioiron 2011: From basic science to medicine
    Tomas Ganz; Fiscal Year: 2011
    ..ferroportin and microRNAs, pathogenesis of iron overload in iron-loading anemias, genetics of hereditary hemochromatosis and iron deficiency, localized disorders of iron homeostasis, and iron diagnostics and therapeutics...
  44. Ferristatin: A New Small Molecule Inhibitor of Iron Transport
    Marianne Wessling Resnick; Fiscal Year: 2010
    ..and to provide a foundation for the development of targeted small-molecule therapies for states of anemia and hemochromatosis. PUBLIC HEALTH RELEVANCE: Iron deficiency remains the most prevalent nutritional problem in our country, yet ..
  45. Epidemiology of Genetic Risk Factors for Osteoporosis in Older Men and Women
    JILL M WAALEN; Fiscal Year: 2010
    ..Waalen has analyzed data from a pre-existing database of 41,000 subjects involved in a genetic study of hemochromatosis, a relatively rare, single gene disease...
  46. Ferritin and Iron Nutrition in Health and Disease
    Elizabeth Theil; Fiscal Year: 2005
    ..Certain disease states such as Sickle Cell Disease (SCD), hereditary hemochromatosis (HH), and beta-thalassemia (beta-thal) have altered gut iron uptake that is poorly characterized...
  47. 2013 Cell Biology of Metals Gordon Research Conference
    David J Eide; Fiscal Year: 2013
    ..of many diseases including neurodegenerative disorders such as Parkinson's and Alzheimer's disease, hemochromatosis, Menkes and Wilson diseases, diabetes, and microbial infections...
  48. ENTEROBACTIN DERIVATIVES: BUILDING A BETTER FERRIC TRAP
    Carlos Gutierrez; Fiscal Year: 1991
    There are human diseases which involve a toxic iron overload (hemochromatosis) and are treated by chelation therapy. The siderophore enterobactin, produced by E...
  49. EFFECTS OF ALCOHOL ON IRON HOMEOSTASIS
    Barry Potter; Fiscal Year: 1991
    ..disease are often associated with disturbances to iron homeostasis, ranging from iron deficiency anemia to hemochromatosis and siderosis...
  50. Genetic modifiers of hemochromatosis phenotype
    Dorota Gertig; Fiscal Year: 2006
    Hereditary hemochromatosis (HH) is a common disorder of iron overload and over 80% of patients are homozygous for the C282Y mutation in the HFE gene...
  51. DERMATOREMEDIATION OF IRON OVERLOAD
    Leonard M Milstone; Fiscal Year: 2010
    ..Iron is essential for life, but too much iron causes the disease hemochromatosis. Normally, 20% of absorbed iron is eliminated through epidermal desquamation...
  52. CARDIAC DISEASE IN COOLEYS ANEMIA--MOLE AND CLIN STUDIES
    Gary Brittenham; Fiscal Year: 2002
    ..major and is a major life-limiting complication of other transfusion- dependent refractory anemias hereditary hemochromatosis and other forms of iron overload...
  53. High Tc susceptometer for magnetic measure of body iron
    Gary Brittenham; Fiscal Year: 2005
    ..the direct, non-invasive measurement of hepatic iron stores in patients with iron overload from hereditary hemochromatosis, thalassemia major, sickle cell disease and other disorders...
  54. IRON ACQUISITION AND VIRULENCE OF VIBRIO VULNIFICUS
    CHRISTINE LITWIN; Fiscal Year: 2002
    ..vulnificus infections. Patients with iron overload syndromes, such as alcoholic liver disease, cirrhosis and hemochromatosis are particularly susceptible to infections with V. vulnificus . Epidemiological studies suggest that V...
  55. INHIBITION OF INTESTINAL HEME IRON ABSORPTION
    JERRY BOMMER; Fiscal Year: 2007
    ..to transfusions / dietary uptake) are a significant cause of the morbidity and mortality associated with hemochromatosis, thalasemia, and sickle cell anemia...
  56. Workshop on BioIron in Thalassemia, Sickle Cell Disease and Hemochromatosis
    Elizabeth Theil; Fiscal Year: 2004
    ..of the Biolron Groups in Northern California with the strong foci of basic and clinical Biolron research in Hemochromatosis in Southern California, Oregon and Utah...
  57. Study of Ferroportin 1 in mammalian iron homeostasis
    Adriana Donovan; Fiscal Year: 2006
    ..identified a missense mutation in Fpn1 that is associated with the iron overload disorder autosomaldominant hemochromatosis. Based upon our studies of Fpn1 in humans and mice, and the requirement for Fpn1 in zebrafish, we hypothesize ..
  58. Sealing Liver Biopsy Tracts with Hydrogels
    LUCJAN HRONOWSKI; Fiscal Year: 2006
    ..Furthermore, diagnosis of hemochromatosis, occult hepatitis B and non-alcoholic steatosis can only be made by a liver biopsy and can have an important ..
  59. Complications of elevated transferrin-iron saturation
    Kris Kowdley; Fiscal Year: 2004
    Hereditary hemochromatosis is caused by mutations in the hemochromatosis (HFE) gene and is one of the most common inherited single gene disorders among Caucasians, affecting approximately 1 in 300 individuals...
  60. ROLE OF CERULOPLASMIN IN IRON METABOLISM AND OVERLOAD
    Paul Fox; Fiscal Year: 2003
    ..Iron in excess of cellular needs is toxic; dietary overload or hereditary hemochromatosis leads to tissue iron deposition and injury, most likely due to redox activity of iron and consequent free ..
  61. MRI Method for In Vivo Iron Quantification
    Jens Jensen; Fiscal Year: 2007
    ..Elevated body iron levels can develop in a variety of disorders, including hereditary hemochromatosis, thalassemia major, myelodysplasia, and sickle cell anemia...
  62. HFE/Transferrin Receptor/Transferrin Interactions
    PAMELA BJORKMAN; Fiscal Year: 2006
    ..b>hemochromatosis. Binding of HFE to one TfR chain lowers the affinity for binding Fe-Tf or another HFE to the other chain...
  63. HEMOCHROMATOSIS REGISTRY
    Kris Kowdley; Fiscal Year: 2000
    ..aimed at exploring the application of a new laboratory method (DNA-based genotyping for the newly discovered hemochromatosis gene) in identifying patients with end-stage liver disease and hereditary hemochromatosis from other patients ..
  64. THERAPEUTIC MULTIDENTATE IRON SEQUESTERING AGENTS
    Kenneth Raymond; Fiscal Year: 2007
    unreadable] DESCRIPTION (provided by applicant): Human iron overload as a consequence of beta-thalassemia, hemochromatosis, or sickle cell anemia is a serious clinical problem...
  65. HEMOCHROMATOSIS--MECHANISMS AND NOVEL THERAPIES
    Lawrie Powell; Fiscal Year: 2004
    ..Recent exciting discoveries including the hemochromatosis gene HFE and the metal transporters DMT1, hephaestin and SFT have provided the opportunity to study the steps ..
  66. MOLECULAR DYNAMICS OF IRON REGULATION AND FUNCTION
    Michael Chorney; Fiscal Year: 2003
    ..Specifically, the individual aims are 1) to determine the structure, processing and expression of the hemochromatosis disease gene within the in vitro and in vivo systems and particularly in the context of iron challenge; 2) to ..