Nelson Wohllk, MD; Rodrigo Zapata, MD; Mónica Acuña, MSc; Humberto Reyes, MD; Alex Navarro, MD; Iván Roa, MD; Juan Carlos Roa, MD
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Wohllk N., Zapata R., Acuña M., Reyes H., Navarro A., Roa I., Roa J.; HFE Gene Mutations in Chile. Ann Intern Med. 2003;139:708-709. doi: 10.7326/0003-4819-139-8-200310210-00029
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Published: Ann Intern Med. 2003;139(8):708-709.
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 and compare it with data reported in the literature in ethnically related groups from Spain and North America.
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Print ISSN: 0003-4819 | Online ISSN: 1539-3704
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