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HFE hemochromatosis screening in patients with severe hip osteoarthritis: A prospective cross-sectional study
OBJECTIVE: Despite the high frequency of HFE gene mutations in Western Europe, widespread screening for HFE hemochromatosis is not recommended due to its variable phenotype. Joint pain and a premature osteoarthritis-like disease including the hip joints are the most frequent manifestation in patient...
Autores principales: | , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6235364/ https://www.ncbi.nlm.nih.gov/pubmed/30427934 http://dx.doi.org/10.1371/journal.pone.0207415 |
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author | Oppl, Bastian Husar-Memmer, Emma Pfefferkorn, Svea Blank, Martha Zenz, Peter Gollob, Eva Wurnig, Christian Engel, Alfred Stadlmayr, Andreas Uyanik, Gökhan Brozek, Wolfgang Klaushofer, Klaus Zwerina, Jochen Datz, Christian |
author_facet | Oppl, Bastian Husar-Memmer, Emma Pfefferkorn, Svea Blank, Martha Zenz, Peter Gollob, Eva Wurnig, Christian Engel, Alfred Stadlmayr, Andreas Uyanik, Gökhan Brozek, Wolfgang Klaushofer, Klaus Zwerina, Jochen Datz, Christian |
author_sort | Oppl, Bastian |
collection | PubMed |
description | OBJECTIVE: Despite the high frequency of HFE gene mutations in Western Europe, widespread screening for HFE hemochromatosis is not recommended due to its variable phenotype. Joint pain and a premature osteoarthritis-like disease including the hip joints are the most frequent manifestation in patients with HFE hemochromatosis and iron overload. Therefore, screening of patients with severe osteoarthritis of the hip could identify patients with HFE hemochromatosis. METHODS: In this prospective cross-sectional study, 940 patients aged <70 years with end-stage osteoarthritis of the hip undergoing elective joint replacement surgery were screened for HFE hemochromatosis and compared to age- and sex-matched controls. RESULTS: No greater prevalence of C282Y homozygosity mutation or elevated serum ferritin or transferrin saturation levels was found in the study cohort with severe osteoarthritis of the hip than in controls from the general population. CONCLUSION: Our screening approach could not identify an increased prevalence of HFE gene mutations and iron overload in younger patients with severe osteoarthritis of the hip. |
format | Online Article Text |
id | pubmed-6235364 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | Public Library of Science |
record_format | MEDLINE/PubMed |
spelling | pubmed-62353642018-12-01 HFE hemochromatosis screening in patients with severe hip osteoarthritis: A prospective cross-sectional study Oppl, Bastian Husar-Memmer, Emma Pfefferkorn, Svea Blank, Martha Zenz, Peter Gollob, Eva Wurnig, Christian Engel, Alfred Stadlmayr, Andreas Uyanik, Gökhan Brozek, Wolfgang Klaushofer, Klaus Zwerina, Jochen Datz, Christian PLoS One Research Article OBJECTIVE: Despite the high frequency of HFE gene mutations in Western Europe, widespread screening for HFE hemochromatosis is not recommended due to its variable phenotype. Joint pain and a premature osteoarthritis-like disease including the hip joints are the most frequent manifestation in patients with HFE hemochromatosis and iron overload. Therefore, screening of patients with severe osteoarthritis of the hip could identify patients with HFE hemochromatosis. METHODS: In this prospective cross-sectional study, 940 patients aged <70 years with end-stage osteoarthritis of the hip undergoing elective joint replacement surgery were screened for HFE hemochromatosis and compared to age- and sex-matched controls. RESULTS: No greater prevalence of C282Y homozygosity mutation or elevated serum ferritin or transferrin saturation levels was found in the study cohort with severe osteoarthritis of the hip than in controls from the general population. CONCLUSION: Our screening approach could not identify an increased prevalence of HFE gene mutations and iron overload in younger patients with severe osteoarthritis of the hip. Public Library of Science 2018-11-14 /pmc/articles/PMC6235364/ /pubmed/30427934 http://dx.doi.org/10.1371/journal.pone.0207415 Text en © 2018 Oppl et al http://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/) , which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. |
spellingShingle | Research Article Oppl, Bastian Husar-Memmer, Emma Pfefferkorn, Svea Blank, Martha Zenz, Peter Gollob, Eva Wurnig, Christian Engel, Alfred Stadlmayr, Andreas Uyanik, Gökhan Brozek, Wolfgang Klaushofer, Klaus Zwerina, Jochen Datz, Christian HFE hemochromatosis screening in patients with severe hip osteoarthritis: A prospective cross-sectional study |
title | HFE hemochromatosis screening in patients with severe hip osteoarthritis: A prospective cross-sectional study |
title_full | HFE hemochromatosis screening in patients with severe hip osteoarthritis: A prospective cross-sectional study |
title_fullStr | HFE hemochromatosis screening in patients with severe hip osteoarthritis: A prospective cross-sectional study |
title_full_unstemmed | HFE hemochromatosis screening in patients with severe hip osteoarthritis: A prospective cross-sectional study |
title_short | HFE hemochromatosis screening in patients with severe hip osteoarthritis: A prospective cross-sectional study |
title_sort | hfe hemochromatosis screening in patients with severe hip osteoarthritis: a prospective cross-sectional study |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6235364/ https://www.ncbi.nlm.nih.gov/pubmed/30427934 http://dx.doi.org/10.1371/journal.pone.0207415 |
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