HFE Gene Mutations in Chile
- Nelson Wohllk, MD;
- Rodrigo Zapata, MD;
- Mnica Acua, MSc;
- Humberto Reyes, MD;
- Alex Navarro, MD;
- Ivn Roa, MD; and
- Juan Carlos Roa, MD
- 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).
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.
Methods: The study included 156 healthy volunteers (hospital employees, voluntary blood donors, and medical students) who …
This 100-word excerpt has been provided in the absence of an abstract.
Most Read
