<i>HFE</i> Gene Mutations in Chile
Authors: Nelson Wohllk, Rodrigo Zapata, Mnica Acua, Humberto Reyes, Alex Navarro, Ivn Roa, Juan Carlos Roa
Journal: Annals of Internal Medicine (2003)

Letters21 October 2003HFE Gene Mutations in ChileNelson Wohllk, MD, Rodrigo Zapata, MD, Mnica Acua, MSc, Humberto Reyes, MD, Alex Navarro, MD, Ivn Roa, MD, and Juan Carlos Roa, MDNelson Wohllk, MDFrom University of Chile School of Medicine Casilla 16038, Santiago, Chile; University of Valparaso and Chilean Air Force Hospital Casilla 27013, Santiago, Chile; and Universidad de La Frontera Casilla 54-D, Temuco, Chile.Search for more papers by this author, Rodrigo Zapata, MDFrom University of Chile School of Medicine Casilla 16038, Santiago, Chile; University of Valparaso and Chilean Air Force Hospital Casilla 27013, Santiago, Chile; and Universidad de La Frontera Casilla 54-D, Temuco, Chile.Search for more papers by this author, Mnica Acua, MScFrom University of Chile School of Medicine Casilla 16038, Santiago, Chile; University of Valparaso and Chilean Air Force Hospital Casilla 27013, Santiago, Chile; and Universidad de La Frontera Casilla 54-D, Temuco, Chile.Search for more papers by this author, Humberto Reyes, MDFrom University of Chile School of Medicine Casilla 16038, Santiago, Chile; University of Valparaso and Chilean Air Force Hospital Casilla 27013, Santiago, Chile; and Universidad de La Frontera Casilla 54-D, Temuco, Chile.Search for more papers by this author, Alex Navarro, MDFrom University of Chile School of Medicine Casilla 16038, Santiago, Chile; University of Valparaso and Chilean Air Force Hospital Casilla 27013, Santiago, Chile; and Universidad de La Frontera Casilla 54-D, Temuco, Chile.Search for more papers by this author, Ivn Roa, MDFrom University of Chile School of Medicine Casilla 16038, Santiago, Chile; University of Valparaso and Chilean Air Force Hospital Casilla 27013, Santiago, Chile; and Universidad de La Frontera Casilla 54-D, Temuco, Chile.Search for more papers by this author, and Juan Carlos Roa, MDFrom University of Chile School of Medicine Casilla 16038, Santiago, Chile; University of Valparaso and Chilean Air Force Hospital Casilla 27013, Santiago, Chile; and Universidad de La Frontera Casilla 54-D, Temuco, Chile.Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-139-8-200310210-00029 SectionsAboutFull TextPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail TO THE EDITOR:Background: The prevalence of hereditary hemochromatosis varies among countries and geographic regions, apparently influenced by the ethnic origin of the local population and by the prevalence of allele variants C282Y and H63D in the HFE gene on chromosome 6 (1, 2). The current population of Chile is predominantly white but includes vestiges of an ancestral ethnic admixture between Spanish colonizers and local aboriginal inhabitants (mainly the Araucanian Indian groups Mapuches, Pehuenches, and Huilliches) that occurred between the 16th and 18th centuries.Objective: To investigate the presence of C282Y and H63D mutations in 2 ethnic groups in Chile ...References1. Powell LW, Subramaniam VN, Yapp TR. Haemochromatosis in the new millennium. J Hepatol. 2000;32:48-62. [PMID: 10728794] CrossrefMedlineGoogle Scholar2. Merryweather-Clarke AT, Pointon JJ, Jouanolle AM, Rochette J, Robson KJ. Geography of HFE C282Y and H63D mutations. Genet Test. 2000;4:183-98. [PMID: 10953959] CrossrefMedlineGoogle Scholar3. Feder JN, Gnirke A, Thomas W, Tsuchihashi Z, Ruddy DA, Basava A, . A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet. 1996;13:399-408. [PMID: 8696333] CrossrefMedlineGoogle Scholar4. 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[The prevalence of the Cys282Tyr mutation in the hemochromatosis gene in Cantabria in patients diagnosed with hereditary hemochromatosis]. Med Clin (Barc). 1999;112:451-3. [PMID: 10320958] MedlineGoogle Scholar9. Marshall DS, Linfert DR, Tsongalis GJ. Prevalence of the C282Y and H63D polymorphisms in a multi-ethnic control population. Int J Mol Med. 1999;4:389-93. [PMID: 10493980] MedlineGoogle Scholar10. Beutler E, Felitti V, Gelbart T, Ho N. The effect of HFE genotypes on measurements of iron overload in patients attending a health appraisal clinic. Ann Intern Med. 2000;133:329-37. [PMID: 10979877] LinkGoogle Scholar11. Steinberg KK, Cogswell ME, Chang JC, Caudill SP, McQuillan GM, Bowman BA, . Prevalence of C282Y and H63D mutations in the hemochromatosis (HFE) gene in the United States. JAMA. 2001;285:2216-22. [PMID: 11325323] CrossrefMedlineGoogle Scholar Author, Article, and Disclosure InformationAuthors: Nelson Wohllk, MD; Rodrigo Zapata, MD; Mnica Acua, MSc; Humberto Reyes, MD; Alex Navarro, MD; Ivn Roa, MD; Juan Carlos Roa, MDAffiliations: From University of Chile School of Medicine Casilla 16038, Santiago, Chile; University of Valparaso and Chilean Air Force Hospital Casilla 27013, Santiago, Chile; and Universidad de La Frontera Casilla 54-D, Temuco, Chile.Grant Support: By grants 1980135 and 1010648 from Fondo Nacional de Desarrollo Cientfico y Tecnolgico (FONDECYT). PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetailsSee AlsoThe Effect of HFE Genotypes on Measurements of Iron Overload in Patients Attending a Health Appraisal Clinic Ernest Beutler , Vincent Felitti , Terri Gelbart , and Ngoc Ho Metrics Cited bySerum Ferritin Is Associated with Metabolic Syndrome and Red Meat ConsumptionIncidence of the HFE gene mutations in a cohort of non-Spanish origin neonates in MadridAssociation of HFE mutations (C282Y and H63D) with iron overload in blood donors from Mexico City 21 October 2003Volume 139, Issue 8Page: 708-709KeywordsAllelesHemochromatosisHispanic peopleHospital medicineMutationOligonucleotidesPolymerase chain reactionPrevention, policy, and public healthRacial and ethnic issuesResearch design ePublished: 21 October 2003 Issue Published: 21 October 2003 Copyright & PermissionsCopyright © 2003 by American College of Physicians. All Rights Reserved.PDF downloadLoading ...