Mutations in the hereditary haemochromatosis gene HFE in professional endurance athletes

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dc.contributor.author López Chicharro, José
dc.contributor.author Hoyos, J.
dc.contributor.author Gómez Gallego, Félix
dc.contributor.author Villa Vicente, José Gerardo
dc.contributor.author Bandrés Moya, Fernando
dc.contributor.author Celaya, P.
dc.contributor.author Lucía Mulas, Alejandro
dc.date.accessioned 2016-08-22T08:14:33Z
dc.date.available 2016-08-22T08:14:33Z
dc.date.issued 2004
dc.identifier.citation Chicharro, J.L., Hoyos, J., Gómez-Gallego, F., Villa, J.G., Bandrés, F., Celaya, P., … Lucia Mulas, A. (2004). Mutations in the hereditary haemochromatosis gene HFE in professional endurance athletes. British Journal of Sports Medicine, 38(4), 418-421. spa
dc.identifier.issn 03063674
dc.identifier.uri http://hdl.handle.net/11268/5643
dc.description.abstract Background: Hereditary haemochromatosis, a disease that affects iron metabolism, progresses with a greater or lesser tendency to induce iron overload, possibly leading to severe organ dysfunction. Most elite endurance athletes take iron supplements during their active sporting life, which could aggravate this condition. Objective: To determine the prevalence and discuss potential clinical implications of mutations of HFE (the gene responsible for hereditary haemochromatosis) in endurance athletes. Methods: Basal concentrations of iron, ferritin, and transferrin and transferrin saturation were determined in the period before competition in 65 highly trained athletes. Possible mutations in the HFE gene were evaluated in each subject by extracting genomic DNA from peripheral blood. The restriction enzymes SnaBI and BclI were used to detect the mutations 845G→A (C282Y) and 187C→G (H63D). Results: Our findings indicate a high prevalence of HFE gene mutations in this population (49.2%) compared with sedentary controls (33.5%). No association was detected in the athletes between mutations and blood iron markers. Conclusions: The findings support the need to assess regularly iron stores in elite endurance athletes. spa
dc.description.sponsorship Sin financiación spa
dc.language.iso eng spa
dc.title Mutations in the hereditary haemochromatosis gene HFE in professional endurance athletes spa
dc.type article spa
dc.description.impact 1.259 JCR (2004) Q2, 19/71 Sport sciences spa
dc.identifier.doi 10.1136/bjsm.2002.003921
dc.rights.accessRights openAccess spa
dc.subject.uem Atletas - Salud e higiene spa
dc.subject.uem Deportistas - Cuidados spa
dc.subject.unesco Medicina deportiva spa
dc.description.filiation UEM spa
dc.relation.publisherversion http://0-doi.org.busca.uem.es/10.1136/bjsm.2002.00392 1 spa
dc.peerreviewed Si spa

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