Iron overload is rare in patients homozygous for the H63D mutation
Hereditary hemochromatosis is characterized by increased iron absorption and tissue deposition, and is one of the most common inherited conditions among individuals of Northern European descent. Two particular mutations in the HFE gene have been implicated in the development of hemochromatosis: the...
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ftpubmed:oai:pubmedcentral.nih.gov:4071918 2023-05-15T17:21:41+02:00 Iron overload is rare in patients homozygous for the H63D mutation Kelley, Melissa Joshi, Nikhil Xie, Yagang Borgaonkar, Mark 2014-04 http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4071918 http://www.ncbi.nlm.nih.gov/pubmed/24729993 en eng Pulsus Group Inc http://www.ncbi.nlm.nih.gov/pmc/articles/PMC http://www.ncbi.nlm.nih.gov/pubmed/24729993 © 2014, Pulsus Group Inc. All rights reserved Original Article Text 2014 ftpubmed 2014-10-05T01:14:46Z Hereditary hemochromatosis is characterized by increased iron absorption and tissue deposition, and is one of the most common inherited conditions among individuals of Northern European descent. Two particular mutations in the HFE gene have been implicated in the development of hemochromatosis: the cysteine-to-tyrosine substitution at amino acid position 282 (C282Y), and the histidine-to-aspartic acid substitution at position 63 (H63D). The overall clinical significance of the H63D mutation, however, remains less than clear than its C282Y counterpart. This study aimed to determine the penetrance of H63D homozygosity in a referred population in Newfoundland and Labrador. Text Newfoundland PubMed Central (PMC) Newfoundland |
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Original Article |
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Original Article Kelley, Melissa Joshi, Nikhil Xie, Yagang Borgaonkar, Mark Iron overload is rare in patients homozygous for the H63D mutation |
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Original Article |
description |
Hereditary hemochromatosis is characterized by increased iron absorption and tissue deposition, and is one of the most common inherited conditions among individuals of Northern European descent. Two particular mutations in the HFE gene have been implicated in the development of hemochromatosis: the cysteine-to-tyrosine substitution at amino acid position 282 (C282Y), and the histidine-to-aspartic acid substitution at position 63 (H63D). The overall clinical significance of the H63D mutation, however, remains less than clear than its C282Y counterpart. This study aimed to determine the penetrance of H63D homozygosity in a referred population in Newfoundland and Labrador. |
format |
Text |
author |
Kelley, Melissa Joshi, Nikhil Xie, Yagang Borgaonkar, Mark |
author_facet |
Kelley, Melissa Joshi, Nikhil Xie, Yagang Borgaonkar, Mark |
author_sort |
Kelley, Melissa |
title |
Iron overload is rare in patients homozygous for the H63D mutation |
title_short |
Iron overload is rare in patients homozygous for the H63D mutation |
title_full |
Iron overload is rare in patients homozygous for the H63D mutation |
title_fullStr |
Iron overload is rare in patients homozygous for the H63D mutation |
title_full_unstemmed |
Iron overload is rare in patients homozygous for the H63D mutation |
title_sort |
iron overload is rare in patients homozygous for the h63d mutation |
publisher |
Pulsus Group Inc |
publishDate |
2014 |
url |
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4071918 http://www.ncbi.nlm.nih.gov/pubmed/24729993 |
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Newfoundland |
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Newfoundland |
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Newfoundland |
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Newfoundland |
op_relation |
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC http://www.ncbi.nlm.nih.gov/pubmed/24729993 |
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© 2014, Pulsus Group Inc. All rights reserved |
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