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ORIGINAL ARTICLE

Penetrance of the C28Y/C282Y genotype of the HFE gene

, PhD , MD, , &
Pages 1073-1077 | Received 01 Nov 2006, Published online: 08 Jul 2009

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Ketil Thorstensen, Mona A. Kvitland, Wenche Ø. Irgens, Arne Åsberg, Berit Borch-Iohnsen, Torolf Moen & Kristian Hveem. (2017) Iron loading in HFE p.C282Y homozygotes found by population screening: relationships to HLA-type and T-lymphocyte subsets. Scandinavian Journal of Clinical and Laboratory Investigation 77:7, pages 477-485.
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Ketil Thorstensen, Mona A. Kvitland, Wenche Ø. Irgens, Kristian Hveem & Arne Åsberg. (2010) Screening for C282Y homozygosity in a Norwegian population (HUNT2): The sensitivity and specificity of transferrin saturation. Scandinavian Journal of Clinical and Laboratory Investigation 70:2, pages 92-97.
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Articles from other publishers (19)

Dennis R. LimGokul VidyasankarChai PhuaMark Borgaonkar. (2020) Clinical Penetrance of Hereditary Hemochromatosis-Related End-Organ Damage of C282Y Homozygosity, A Newfoundland Experience. Clinical and Translational Gastroenterology 11:11, pages e00258.
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Timothy H. Ciesielski, Joel Schwartz, David C. Bellinger, Russ Hauser, Chitra Amarasiriwardena, David Sparrow & Robert O. Wright. (2018) Iron-processing genotypes, nutrient intakes, and cadmium levels in the Normative Aging Study: Evidence of sensitive subpopulations in cadmium risk assessment. Environment International 119, pages 527-535.
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Barbara de Graaff, Amanda Neil, Kristy Sanderson, Kwang Chien Yee & Andrew J. Palmer. (2017) Costs associated with hereditary haemochromatosis in Australia: a cost-of-illness study. Australian Health Review 41:3, pages 254.
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Graça Porto, Pierre Brissot, Dorine W Swinkels, Heinz Zoller, Outi Kamarainen, Simon Patton, Isabel Alonso, Michael Morris & Steve Keeney. (2015) EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH). European Journal of Human Genetics 24:4, pages 479-495.
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Carlos J. Gallego, Amber Burt, Agnes S. Sundaresan, Zi Ye, Christopher Shaw, David R. Crosslin, Paul K. Crane, S. Malia Fullerton, Kris Hansen, David Carrell, Helena Kuivaniemi, Kimberly Derr, Mariza de Andrade, Catherine A. McCarty, Terrie E. Kitchner, Brittany K. Ragon, Sarah C. Stallings, Gabriella Papa, Joseph Bochenek, Maureen E. Smith, Sharon A. Aufox, Jennifer A. Pacheco, Vaibhav Patel, Elisha M. Friesema, Angelika Ludtke Erwin, Omri Gottesman, Glenn S. Gerhard, Marylyn Ritchie, Arno G. Motulsky, Iftikhar J. Kullo, Eric B. Larson, Gerard Tromp, Murray H. Brilliant, Erwin Bottinger, Joshua C. Denny, Dan M. Roden, Marc S. Williams & Gail P. Jarvik. (2015) Penetrance of Hemochromatosis in HFE Genotypes Resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network. The American Journal of Human Genetics 97:4, pages 512-520.
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Rune J. Ulvik. (2015) The liver in haemochromatosis. Journal of Trace Elements in Medicine and Biology 31, pages 219-224.
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Wylie Burke. (2014) Genetic Tests: Clinical Validity and Clinical Utility. Current Protocols in Human Genetics 81:1.
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Etheresia Pretorius, Janette Bester, Natasha Vermeulen, Boguslaw Lipinski, George S. Gericke & Douglas B. Kell. (2014) Profound Morphological Changes in the Erythrocytes and Fibrin Networks of Patients with Hemochromatosis or with Hyperferritinemia, and Their Normalization by Iron Chelators and Other Agents. PLoS ONE 9:1, pages e85271.
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Richard Skoien & Lawrie W. Powell. 2012. Iron Physiology and Pathophysiology in Humans. Iron Physiology and Pathophysiology in Humans 385 398 .
James C. Barton & Paul C. Adams. (2010) HFE hemochromatosis—screening, diagnosis and management. Nature Reviews Gastroenterology & Hepatology 7:9, pages 482-484.
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James C. Barton, Corwin Q. Edwards, Pradyumna D. Phatak, Robert S. Britton & Bruce R. BaconJames C. Barton, Corwin Q. Edwards, Pradyumna D. Phatak, Robert S. Britton & Bruce R. Bacon. 2011. Handbook of Iron Overload Disorders. Handbook of Iron Overload Disorders 65 107 .
. (2010) EASL clinical practice guidelines for HFE hemochromatosis. Journal of Hepatology 53:1, pages 3-22.
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Bruce R. Bacon & Robert S. Britton. 2010. Sleisenger and Fordtran's Gastrointestinal and Liver Disease. Sleisenger and Fordtran's Gastrointestinal and Liver Disease 1239 1247.e1 .
James C. Barton & Ronald T. Acton. (2009) Hemochromatosis and Vibrio vulnificus Wound Infections. Journal of Clinical Gastroenterology 43:9, pages 890-893.
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Daniel F. Wallace & V. Nathan Subramaniam. (2009) Co-factors in liver disease: The role of HFE-related hereditary hemochromatosis and iron. Biochimica et Biophysica Acta (BBA) - General Subjects 1790:7, pages 663-670.
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Wylie Burke. (2009) Clinical Validity and Clinical Utility of Genetic Tests. Current Protocols in Human Genetics 60:1.
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Richard S. Ajioka, John D. Phillips, Robert B. Weiss, Diane M. Dunn, Maria W. Smit, Sean C. Proll, Michael G. Katze & James P. Kushner. (2008) Down-regulation of hepcidin in porphyria cutanea tarda. Blood 112:12, pages 4723-4728.
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Stuart Watkins, Douglas Thorburn, Neeraj Joshi, Margaret Neilson, Theresa Joyce, Richard Spooner, Alexander Cooke, Peter R. Mills, A. John Morris & Adrian J. Stanley. (2008) The biochemical and clinical penetrance of individuals diagnosed with genetic haemochromatosis by predictive genetic testing. European Journal of Gastroenterology & Hepatology 20:5, pages 379-383.
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Bruce R. Bacon & Robert S. Britton. (2008) Clinical Penetrance of Hereditary Hemochromatosis. New England Journal of Medicine 358:3, pages 291-292.
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