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Analysis of the HFE gene (H63D and C282Y) mutations in patients with iron overload, family members and controls from Antioquia, Northwest Colombia

2007; Wiley; Volume: 73; Issue: 1 Linguagem: Inglês

10.1111/j.1399-0004.2007.00919.x

1399-0004

I. C. Avila-Gomez, G Latorre‐Sierra, JC Restrepo‐Gutierrez, G Correa‐Arango, Marlene Jiménez-Del-Río, Carlos Velez‐Pardo,

Hemoglobinopathies and Related Disorders

Clinical GeneticsVolume 73, Issue 1 p. 92-93 Analysis of the HFE gene (H63D and C282Y) mutations in patients with iron overload, family members and controls from Antioquia, Northwest Colombia IC Avila-Gomez, IC Avila-Gomez School of Medicine, Department of Internal Medicine, Neuroscience Research Group, University of Antioquia, Medellin, ColombiaSearch for more papers by this authorG Latorre-Sierra, G Latorre-Sierra School of Medicine, Department of Internal Medicine, Endocrinology ServiceSearch for more papers by this authorJC Restrepo-Gutierrez, JC Restrepo-Gutierrez School of Medicine, Department of Internal Medicine, Gastrohepatology Service, University Hospital San Vicente de Paul, Medellin, ColombiaSearch for more papers by this authorG Correa-Arango, G Correa-Arango School of Medicine, Department of Internal Medicine, Gastrohepatology Service, University Hospital San Vicente de Paul, Medellin, ColombiaSearch for more papers by this authorM Jimenez-Del-Rio, M Jimenez-Del-Rio School of Medicine, Department of Internal Medicine, Neuroscience Research Group, University of Antioquia, Medellin, ColombiaSearch for more papers by this authorC Velez-Pardo, Corresponding Author C Velez-Pardo School of Medicine, Department of Internal Medicine, Neuroscience Research Group, University of Antioquia, Medellin, ColombiaCarlos Velez-Pardo, DScSchool of MedicineDepartment of Internal MedicineNeuroscience Research GroupUniversity of AntioquiaCalle 62 # 52-59SIU-Lab 411/412MedellinColombiaTel.: +574 210 64 57Fax: +574 210 64 44e-mail: [email protected]Search for more papers by this author IC Avila-Gomez, IC Avila-Gomez School of Medicine, Department of Internal Medicine, Neuroscience Research Group, University of Antioquia, Medellin, ColombiaSearch for more papers by this authorG Latorre-Sierra, G Latorre-Sierra School of Medicine, Department of Internal Medicine, Endocrinology ServiceSearch for more papers by this authorJC Restrepo-Gutierrez, JC Restrepo-Gutierrez School of Medicine, Department of Internal Medicine, Gastrohepatology Service, University Hospital San Vicente de Paul, Medellin, ColombiaSearch for more papers by this authorG Correa-Arango, G Correa-Arango School of Medicine, Department of Internal Medicine, Gastrohepatology Service, University Hospital San Vicente de Paul, Medellin, ColombiaSearch for more papers by this authorM Jimenez-Del-Rio, M Jimenez-Del-Rio School of Medicine, Department of Internal Medicine, Neuroscience Research Group, University of Antioquia, Medellin, ColombiaSearch for more papers by this authorC Velez-Pardo, Corresponding Author C Velez-Pardo School of Medicine, Department of Internal Medicine, Neuroscience Research Group, University of Antioquia, Medellin, ColombiaCarlos Velez-Pardo, DScSchool of MedicineDepartment of Internal MedicineNeuroscience Research GroupUniversity of AntioquiaCalle 62 # 52-59SIU-Lab 411/412MedellinColombiaTel.: +574 210 64 57Fax: +574 210 64 44e-mail: [email protected]Search for more papers by this author First published: 14 November 2007 https://doi.org/10.1111/j.1399-0004.2007.00919.xCitations: 2Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat No abstract is available for this article. References 1 Feder JN, Gnirke A, Thomas W et al. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet 1996: 13: 399–408. 2 Carvajal-Carmona LG, Soto ID, Pineda N et al. Strong Amerind/white sex bias and a possible Sephardic contribution among the founders of a population in northwest Colombia. Am J Hum Genet 2000: 67: 1287–1295. 3 Pointon JJ, Merryweather-clarke AT, Carella M, Robson KJH. Detection of C282Y and H63D in the HFE gene. Genetic Testing 2000: 4: 115–120. 4 Adams PC, Reboussin DM, Barton JC et al. Hemochromatosis and iron-overload screening in a racially diverse population. N Engl J Med 2005: 352: 1769–1778. 5 De Juan D, Reta A, Castiella A et al. HFE gene mutations analysis in Basque hereditary haemochromatosis patients and controls. Eur J Hum Genet 2001: 9: 961–964. 6 Waalen J, Nordestgaard BG, Beutler E. The penetrance of hereditary hemochromatosis. Best Practice Res Clinic Haematol 2005: 18: 203–220. 7 Potekhina ES, Lavrov AV, Samokhodskaya LM et al. Unique genetic profile of hereditary hemochromatosis in Russians: high frequency of C282Y mutation in population, but not in patients. Blood Cells Mol Dis 2005: 35: 182–188. 8 Ropero P, Briceño O, Mateo M et al. Frequency of the C282Y and H63D mutations of the hemochromatosis (HFE) in a cohort of 1,000 neonates in Madrid (Spain). Ann Hematol 2006: 85: 323–326. 9 Matas M, Guix P, Castro JA et al. Prevalence of HFE C282Y and H63D in Jewish populations and clinical implications of H63D homozygosity. Clin Genet 2006: 69: 155–162. Citing Literature Volume73, Issue1January 2008Pages 92-93 ReferencesRelatedInformation