Genomes and Genes
Gene Symbol: Hfe
Alias: hereditary hemochromatosis protein homolog, RT1-CAFE
- Impact of hemochromatosis gene mutations on cardiac status in doxorubicin-treated survivors of childhood high-risk leukemiaSteven E Lipshultz
Department of Pediatrics, University of Miami Miller School of Medicine, Miami, Florida Sylvester Comprehensive Cancer Center, University of Miami Miller School of Medicine, Miami, Florida
Cancer 119:3555-62. 2013..The authors determined the frequency of hemochromatosis (HFE) gene mutations associated with hereditary hemochromatosis and their relationship with doxorubicin-associated ..
- Increased prevalence of the HFE C282Y hemochromatosis allele in women with breast cancerAsha R Kallianpur
Department of Medicine, Division of General Internal Medicine, Vanderbilt University Medical Center, and VA Center for Health Services Research, Veterans Affairs Medical Center, Nashville, Tennessee, USA
Cancer Epidemiol Biomarkers Prev 13:205-12. 2004Individuals with the major hemochromatosis (HFE) allele C282Y and iron overload develop hepatocellular and some extrahepatic malignancies at increased rates...
- The HFE gene is associated to an earlier age of onset and to the presence of diabetic nephropathy in diabetes mellitus type 2Rafael Oliva
Grup de Genètica Molecular, Hospital Clinic, Faculty of Medicine, University of Barcelona, Institut d Investigacions Biomediques August Pi i Sunyer IDIBAPS, Barcelona, Spain
Endocrine 24:111-4. 2004We initiated the present work to determine whether the presence of the HFE C282Y or H63D mutations could be related to the clinical expression of diabetes mellitus type 2...
- [Mutations in the HFE gene in patients with rheumatic diseases]I Putova
Centrum biomedicínských oborů oddelení bunecné a molekulární biologie 3 LF UK, Praha
Cas Lek Cesk 144:391-7; discussion 397-8. 2005..Aim of the study. 1. To establish frequency of C282Y and H63D mutations in the HFE gene (the hemochromatosis gene) in general population of the Czech Republic and in patients with hemochromatosis. 2...
- Frequency of HFE gene mutations in Iranian beta-thalassaemia minor patientsMaryam Jazayeri
Research Centre for Gastroenterology and Liver Diseases, Shahid Beheshti University of Medical Sciences, Tehran, Iran
Eur J Haematol 71:408-11. 2003..When it is inherited together with a mutation in the HFE (HLA-H) gene associated with hereditary haemochromatosis, iron overload may ensue...
- Increased hepatic iron concentration in nonalcoholic steatohepatitis is associated with increased fibrosisD K George
Clinical Sciences Unit, Queensland Institute of Medical Research, Brisbane, Australia
Gastroenterology 114:311-8. 1998..The aim of this study was to investigate the role of the hemochromatosis mutation Cys282Tyr in development of the mild hepatic iron overload found in some patients with NASH and its association with hepatic damage in these patients...
- The hemochromatosis C282Y allele: a risk factor for hepatic veno-occlusive disease after hematopoietic stem cell transplantationA R Kallianpur
Division of General Internal Medicine and Public Health, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN 37212, USA
Bone Marrow Transplant 35:1155-64. 2005..Since the liver is a major site of iron deposition in HFE-associated hemochromatosis, and iron has oxidative toxicity, we hypothesized that HFE genotype might influence the ..
- Investigation of genetic variants of genes of the hemochromatosis pathway and their role in breast cancerBenny K Abraham
Dr Margarete Fischer Bosch Institute of Clinical Pharmacology, Auerbachstrasse 112, D 70376 Stuttgart, Germany
Cancer Epidemiol Biomarkers Prev 14:1102-7. 2005..hemochromatosis and transferrin receptor system mutations in breast cancer, we analyzed 19 sequence variations at HFE, TFR1, TFR2, and FPN1 and compared genotype frequencies between cases and controls in a German population...
- Frequency of hemochromatosis gene (HFE) mutations in Russian healthy women and patients with estrogen-dependent cancersTatiana V Kondrashova
Medical Radiological Research Center, Russian Academy of Medical Sciences, Ul Koroleva 4, Obninsk 249036, Russia
Biochim Biophys Acta 1762:59-65. 2006Possible association between the C282Y and H63D mutations in the HFE gene and estrogen-dependent cancer risk was assessed. Genotyping was performed using PCR amplification followed by digestion of products with specific restrictases...
- The overlapping of local iron overload and HFE mutation in venous leg ulcer pathogenesisPaolo Zamboni
Vascular Diseases Center, University of Ferrara, 44100 Ferrara, Italy
Free Radic Biol Med 40:1869-73. 2006..differences could be genetically determined and investigated the role of the C282Y and H63D mutations of the HFE gene. C282Y mutation significantly increases the risk of ulcer in primary CVD more than six times (OR = 6.69; 1...
- HFE gene mutations in patients with acute leukemiaAssunta Viola
Divison of Hematology and Stem Cell Transplantion Unit, Cardarelli Hospital, Naples, Italy
Leuk Lymphoma 47:2331-4. 2006An increased incidence of HFE gene mutations has been described in hematologic malignancies...
- [Mutations of hemochromatosis gene in volunteer blood donors and Chilean porphyria cutanea tarda patients]Carlos F Wolff
Departamento de Medicina Occidente, Universidad de Chile, Hospital San Juan de Dios, Santiago, Chile
Medicina (B Aires) 66:421-6. 2006..The H63D and C282Y mutations of the HFE gene frequency were studied in a PCT group of patients and compared with the frequency observed in a group of ..
- HFE gene mutations in Brazilian thalassemic patientsT M Oliveira
Departamento de Biologia, Instituto de Biociencias, Letras e Ciencias Exatas, Universidade do Estado de Sao Paulo, 15054 000 Sao Jose do Rio Preto, SP, Brazil
Braz J Med Biol Res 39:1575-80. 2006..iron metabolism characterized by increased iron intake and progressive storage and is related to mutations in the HFE gene. Interactions between thalassemia and hemochromatosis may further increase iron overload...
- Hemochromatosis-associated gene mutations in patients with myelodysplastic syndromes with refractory anemia with ringed sideroblastsZachary P Nearman
Experimental Hematology and Hematopoiesis Section, Taussig Cancer Center, Cleveland, Ohio, USA
Am J Hematol 82:1076-9. 2007..were genotyped using restriction fragment length polymorphism, designed to detect C282Y and H63D mutations of the HFE gene...
- Hepatic macrophage iron aggravates experimental alcoholic steatohepatitisShigang Xiong
Department of Pathology, Keck School of Medicine, University of Southern California, 1333 San Pablo St, MMR 402, Los Angeles, CA 90033 9141, USA
Am J Physiol Gastrointest Liver Physiol 295:G512-21. 2008..alcohol feeding in rats results in increased expression of transferrin (Tf) receptor-1 and hemochromatosis gene (HFE), enhanced iron uptake, an increase in nonheme iron content, and accentuated ILI response for NF-kappaB activation ..
- Porphyria cutanea tarda, hepatitis C, uroporphyrinogen decarboxylase and mutations of HFE gene. A case-control studyBernard Cribier
Clinique Dermatologique, Universite Louis Pasteur, Faculte de Medecine, Hopitaux Universitaires de Strasbourg, Strasbourg, France
Dermatology 218:15-21. 2009Hemochromatosis gene (HFE) mutations and the hepatitis C virus (HCV) are known risk factors for porphyria cutanea tarda (PCT), but interactions with erythrocytic uroporphyrinogen decarboxylase (UROD) have seldom been addressed.
- HFE C282Y mutation as a genetic modifier influencing disease susceptibility for chronic myeloproliferative diseaseHajnalka Andrikovics
National Blood Transfusion Service, Department of Hematology and Stem Cell Transplantation, St Istvan and St Laszlo Hospital of Budapest, and 3rd Department of Internal Medicine, Semmelweis University, Budapest, Hungary
Cancer Epidemiol Biomarkers Prev 18:929-34. 2009..and several studies assessed the potential role of genetic variants of proteins involved in iron metabolism (HFE C282Y, TFR S142G) in different malignancies...
- Absence of iron-regulatory protein Hfe results in hyperproliferation of retinal pigment epithelium: role of cystine/glutamate exchangerJaya P Gnana-Prakasam
Department of Biochemistry and Molecular Biology, Medical College of Georgia, Augusta, GA 30912, USA
Biochem J 424:243-52. 2009..Mutations in HFE (histocompatability leucocyte antigen class I-like protein involved in iron homoeostasis) are responsible for most ..
- An extensive analysis of the hereditary hemochromatosis gene HFE and neighboring histone genes: associations with childhood leukemiaCharronne F Davis
Genomic Immunoepidemiology Laboratory, HUMIGEN LLC, The Institute for Genetic Immunology, 2439 Kuser Road, Hamilton, NJ, 08690 3303, USA
Ann Hematol 89:375-84. 2010The most common mutation of the HFE gene C282Y has shown a risk association with childhood acute lymphoblastic leukemia (ALL) in Welsh and Scottish case-control studies. This finding has not been replicated outside Britain...
- Iron-dependent regulation of MDM2 influences p53 activity and hepatic carcinogenesisPaola Dongiovanni
Center of Metabolic and Liver Diseases, Department of Internal Medicine, University of Milano, Ospedale Policlinico Mangiagalli e Regina Elena Fondazione IRCCS, 20122 Milano, Italy
Am J Pathol 176:1006-17. 2010..activity, was associated with higher risk of hepatocarcinoma in cirrhotic patients with hemochromatosis, and with HFE mutations in patients with hepatocarcinoma without hemochromatosis, suggesting an interaction between MDM2 and iron ..
- Mutation H63D in the HFE gene confers risk for the development of type 2 diabetes mellitus but not for chronic complicationsMaikel L Colli
Endocrine Division, Hospital de Clinicas de Porto Alegre, Federal University of Rio Grande do Sul, Porto Alegre, Brazil
J Diabetes Complications 25:25-30. 2011To evaluate the frequency of mutations in the HFE gene (C282Y and H63D) in type 2 diabetes mellitus (DM) patients and their possible association with diabetic chronic complications.
- Iron-regulatory gene expression during liver regenerationAnnelie Mollbrink
Department of Medicine, Karolinska University Hospital Huddinge, Division of Gastroenterology and Hepatology, Stockholm, Sweden
Scand J Gastroenterol 47:591-600. 2012..The expressions of hepcidin and the iron-regulatory pathway of hepcidin gene expression during the late phase of liver regeneration are unknown...
- Ferroportin-1 is a 'nuclear'-negative acute-phase protein in rat liver: a comparison with other iron-transport proteinsNaila Naz
Division of Gastroenterology and Endocrinology, Department of Internal Medicine, University Hospital, Georg August University, Gottingen, Germany
Lab Invest 92:842-56. 2012..In liver, mRNA amount of Fpn-1, Fpn-1a, Fpn-1b, HFE, hemojuvelin (HJV) and hephaestin (heph) genes showed a rapid decrease...
- H63D mutation in the HFE gene increases iron overload in beta-thalassemia carriersMaria Antonietta Melis
Dipartimento Scienze Biomediche e Biotecnologie, Sezione Clinica e Biologia dell Età Evolutiva, Universita degli Studi di Cagliari, Italy
Haematologica 87:242-5. 2002Hereditary hemochromatosis (HH) is an autosomal recessive disorder of iron metabolism. The HFE gene implicated in this disorder has been identified on chromosome 6 (6p21.3)...
- HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosisC Mura
Centre de Biogenetique, ETSBO, CHU, UBO, BP454, Brest, France
Blood 93:2502-5. 1999Hereditary hemochromatosis (HH) is a common autosomal recessive genetic disorder of iron metabolism. The HFE candidate gene encoding an HLA class I-like protein involved in HH was identified in 1996...
- Interaction between haemochromatosis and transferrin receptor genes in different neoplastic disordersL E Beckman
Department of Medical Genetics, Umea University, S 901 85 Umea, S, Sweden
Carcinogenesis 20:1231-3. 1999A number of genes are involved in iron metabolism, including the transferrin receptor (TFR) and haemochromatosis (HFE) genes...
- Common variable immunodeficiency and IgG subclass deficiency in central Alabama hemochromatosis probands homozygous for HFE C282YJames C Barton
Southern Iron Disorders Center, Birmingham, AL, USA
Blood Cells Mol Dis 31:102-11. 2003Eight hemochromatosis probands with HFE C282Y homozygosity had frequent, severe, or unusual infections and common variable immunodeficiency (CVID) or immunoglobulin (Ig) G subclass deficiency (IgGSD)...
- Genotypic and phenotypic heterogeneity of African Americans with primary iron overloadJames C Barton
Southern Iron Disorders Center, G 105, 20220 Brookwood Medical Center Drive, Birmingham, AL 35209, USA
Blood Cells Mol Dis 31:310-9. 2003..The percentage of index patients positive for HFE C282Y was greater than that of controls (P = 0.0058)...
- The C282Y mutation of the HFE gene is not found in Chinese haemochromatotic patients: multicentre retrospective studyW M Tsui
Department of Pathology, Caritas Medical Centre, Kowloon, Hong Kong
Hong Kong Med J 6:153-8. 2000To detect two novel mutations (C282Y and H63D) of the HFE gene in Chinese patients with hepatic iron overload.
- Long-term sequelae of HFE deletion in C57BL/6 x 129/O1a mice, an animal model for hereditary haemochromatosisA Lebeau
Pathologisches Institut, Ludwig Maximilians Universitat, Munchen, Germany, Universitat Hohenheim, Stuttgart, Germany
Eur J Clin Invest 32:603-12. 2002b>HFE knockout mice (C57BL/6 x 129/Ola strain) mimic the functional aberrations of human hereditary haemochromatosis (HH) in short-term experiments. The present study investigates functional and morphological long-term changes.
- High incidence of hemochromatosis gene mutations in the myelodysplastic syndrome: the Budapest Study on 50 patientsJudit Varkonyi
3rd Department of Internal Medicine, Semmelweis University Medical School, Budapest, Hungary
Acta Haematol 109:64-7. 2003..testing of nonselected patients with the myelodysplastic syndrome (MDS) for the C282Y and H63D mutations of the HFE gene responsible for hereditary hemochromatosis revealed a significantly increased frequency of these mutations ..
- A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosisJ 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...
- A mouse model of familial porphyria cutanea tardaJ D Phillips
Department of Medicine, University of Utah, School of Medicine, Salt Lake City, UT 84132, USA
Proc Natl Acad Sci U S A 98:259-64. 2001..Hemochromatosis gene (HFE) mutations are frequently found when the phenotype is expressed...
- Nonalcoholic fatty liver disease: a feature of the metabolic syndromeG Marchesini
Unit of Metabolic Diseases, Department of Internal Medicine and Gastroenterology, University of Bologna, Italy
Diabetes 50:1844-50. 2001..Four subjects were heterozygous for mutation His63Asp of the HFE gene of familiar hemochromatosis...
- Expanding the natural history of nonalcoholic steatohepatitis: from cryptogenic cirrhosis to hepatocellular carcinomaElisabetta Bugianesi
Department of Gastroenterology, Ospedale S Giovanni Battista, University of Turin, Turin, Italy
Gastroenterology 123:134-40. 2002..Nonalcoholic steatohepatitis (NASH) may progress to cirrhosis; whether NASH plays also a role in the development of hepatocellular carcinoma (HCC) is unknown...
- Haemochromatosis gene mutations in idiopathic dilated cardiomyopathyN G Mahon
Department of Cardiological Sciences, St George s Hospital Medical School, Cranmer Terrace, London SW17 0RE, UK
Heart 84:541-7. 2000Two common mutations of the haemochromatosis associated gene (HFE) (cys282tyr (C282Y) and his63asp (H63D)) have been implicated in haemochromatosis and as modulators in cardiovascular disease.
- Clinical characteristics of type 2 diabetes in patients with mutations of HFED Dubois-Laforgue
Unité de Diabétologie Service d Immunologie Clinique, Hopital Necker, France
Diabetes Metab 26:65-8. 2000Genetic hemochromatosis (GH) is associated with two mutations of the HFE gene (Cys282Tyr and His63Asp)...
- Increased risk of acute myocardial infarction in carriers of the hemochromatosis gene Cys282Tyr mutation : a prospective cohort study in men in eastern FinlandT P Tuomainen
Research Institute of Public Health, University of Kuopio, Kuopio, Finland
Circulation 100:1274-9. 1999Background-Homozygosity for a relatively common Cys282Tyr mutation of the human hemochromatosis-associated (HFE) gene was recently found to account for most cases of hereditary hemochromatosis...
- The hereditary hemochromatosis protein, HFE, specifically regulates transferrin-mediated iron uptake in HeLa cellsC N Roy
Department of Cell and Developmental Biology, Oregon Health Sciences University, Portland, Oregon 97201 3098, USA
J Biol Chem 274:9022-8. 1999b>HFE is the protein product of the gene mutated in the autosomal recessive disease hereditary hemochromatosis (Feder, J. N., Gnirke, A., Thomas, W., Tsuchihashi, Z., Ruddy, D. A., Basava, A., Dormishian, F., Domingo, R. J., Ellis, M. C...
- Cloning, sequencing and characterization of the rat hereditary hemochromatosis promoter: comparison of the human, mouse and rat HFE promoter regionsM Sanchez
Human Genome Laboratory, Faculty of Medicine, University of Barcelona, Institut de Investigacions Biomediques August Pi i Sunyer, Casanova 143, 08036, Barcelona, Spain
Gene 225:77-87. 1998We have cloned and sequenced 1398bp of the rat HFE gene promoter region...
- Hemochromatosis gene variants in patients with cardiomyopathyA C Pereira
Heart Institute InCor and Internal Medicine Department, Sao Paulo University Medical School, Sao Paulo, Brazil
Am J Cardiol 88:388-91. 2001..64, 95% confidence interval 1.71 to 25.73, after adjustment). In our sample, genetic variation in the HFE gene was associated with ischemic cardiomyopathy...
- The effect of iron status on vascular healthLeanne M Yunker
Department of Medical Genetics, University of Calgary, Calgary, Alberta, Canada
Vasc Med 11:85-91. 2006..The present study does not support the hypothesis that mild to moderately increased iron stores are associated with enhanced atherosclerosis risk...
- Haemochromatosis protein is expressed on the terminal web of enterocytes in proximal small intestine of the ratA R West
M311, Physiology, School of Biomedical and Chemical Sciences, The University of Western Australia, Crawley, WA 6009, Western Australia
Histochem Cell Biol 125:283-92. 2006The haemochromatosis protein (HFE) is an important regulator of body iron stores. In the liver, HFE is required for appropriate expression of hepcidin, a humoral mediator of iron absorption...
- Hemochromatosis C282Y gene mutation increases the risk of venous leg ulcerationPaolo Zamboni
Inter Departmental Vascular Disease Center, University of Ferrara, Italy
J Vasc Surg 42:309-14. 2005..progressing in approximately 10% of cases toward chronic venous leg ulceration, whereas the hemochromatosis gene (HFE) C282Y mutation is the most common recognized genetic defect in iron metabolism...
- Haemochromatosis (HFE) gene C282Y mutation and the risk of coronary artery disease and myocardial infarction: a study in 1279 patients undergoing coronary angiographyR Surber
J Med Genet 40:e58. 2003
- Association between HFE mutations and acute myocardial infarction: a study in patients from Northern and Southern ItalyGiuseppina Candore
Gruppo di Studio sull Immunosenescenza, Dipartimento di Biopatologia e Metodologie Biomediche, Universita di Palermo, Palermo, Italy
Blood Cells Mol Dis 31:57-62. 2003..Some studies have shown that individuals who carried HFE mutations may be at greater risk of developing coronary heart disease than those without the mutations...
- Structure and liver cell expression pattern of the HFE gene in the ratPetra Holmström
Division of Clinical Chemistry, Department of Laboratory Medicine, Karolinska Institute, Huddinge University Hospital C1 74, S 141 86 Stockholm, Sweden
J Hepatol 39:308-14. 2003Very little is known about the HFE gene in the rat. The aim of the present study was to determine: (1) the structure of the rat HFE gene; and (2) the tissue expression of the HFE mRNA in the rat, with special emphasis on the liver.
- Hemochromatosis gene (HFE) polymorphisms are not associated with peripheral arterial diseaseHerwig Köppel
Thromb Haemost 91:1258-9. 2004
- Changes in the expression of intestinal iron transport and hepatic regulatory molecules explain the enhanced iron absorption associated with pregnancy in the ratK N Millard
Iron Metabolism Laboratory, The Queensland Institute of Medical Research, PO Royal Brisbane Hospital, Brisbane, Queensland 4029 Australia
Gut 53:655-60. 2004..Iron absorption increases during pregnancy to cater for the increased iron requirements of the growing fetus...
- Synergy between the C2 allele of transferrin and the C282Y allele of the haemochromatosis gene (HFE) as risk factors for developing Alzheimer's diseaseK J H Robson
MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford OX3 9DS, UK
J Med Genet 41:261-5. 2004..There is evidence that iron may play a role in the pathology of Alzheimer's disease (AD). There may be genetic factors that contribute to iron deposition resulting in tissue damage thus exacerbating AD...
- Localization of iron metabolism-related mRNAs in rat liver indicate that HFE is expressed predominantly in hepatocytesAn Sheng Zhang
Department of Cell and Developmental Biology, Oregon Health and Science University, Portland, OR 97239, USA
Blood 103:1509-14. 2004..Levels of type I hereditary hemochromatosis gene (HFE), transferrin, hepcidin, transferrin receptors 1 and 2 (TfR1, TfR2), ferroportin 1 (FPN1), divalent metal ..
- Iron as a Nutritional Modifier of Toxic Neuropathy in HIV/AIDSAsha Kallianpur; Fiscal Year: 2007..A common variant in the hemochromatosis (HFE) gene, C282Y, causes increased dietary iron absorption and defects in cellular iron transport and immunity...