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HFE protein impact on iron metabolism
Hereditary hemochromatosis type 1 is an autosomal recessive disorder caused by HFE gene mutations, which is an iron homeostasis metabolism controlling co-factor. Adults with male predomination present with clinical symptoms derived by iron overload in organs. The phenotype expression is individual w...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Sciendo
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8522971/ https://www.ncbi.nlm.nih.gov/pubmed/28796976 http://dx.doi.org/10.34763/devperiodmed.20172102.8590 |
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author | Kaczorowska-Hać, Barbara Kaczor, Jan Jacek |
author_facet | Kaczorowska-Hać, Barbara Kaczor, Jan Jacek |
author_sort | Kaczorowska-Hać, Barbara |
collection | PubMed |
description | Hereditary hemochromatosis type 1 is an autosomal recessive disorder caused by HFE gene mutations, which is an iron homeostasis metabolism controlling co-factor. Adults with male predomination present with clinical symptoms derived by iron overload in organs. The phenotype expression is individual with an influence of individual and environmental factors. Despite the fact that HFE variants are widespread, its impact still remains unknown. The article reviews the literature considering the role of HFE gene mutations regarding its impact in children. |
format | Online Article Text |
id | pubmed-8522971 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | Sciendo |
record_format | MEDLINE/PubMed |
spelling | pubmed-85229712021-11-19 HFE protein impact on iron metabolism Kaczorowska-Hać, Barbara Kaczor, Jan Jacek Dev Period Med Review Article/Praca Poglądowa Hereditary hemochromatosis type 1 is an autosomal recessive disorder caused by HFE gene mutations, which is an iron homeostasis metabolism controlling co-factor. Adults with male predomination present with clinical symptoms derived by iron overload in organs. The phenotype expression is individual with an influence of individual and environmental factors. Despite the fact that HFE variants are widespread, its impact still remains unknown. The article reviews the literature considering the role of HFE gene mutations regarding its impact in children. Sciendo 2017-08-11 /pmc/articles/PMC8522971/ /pubmed/28796976 http://dx.doi.org/10.34763/devperiodmed.20172102.8590 Text en © 2017 Barbara Kaczorowska-Hać, Jan Jacek Kaczor, published by Sciendo https://creativecommons.org/licenses/by/4.0/This work is licensed under the Creative Commons Attribution 4.0 International License. |
spellingShingle | Review Article/Praca Poglądowa Kaczorowska-Hać, Barbara Kaczor, Jan Jacek HFE protein impact on iron metabolism |
title | HFE protein impact on iron metabolism |
title_full | HFE protein impact on iron metabolism |
title_fullStr | HFE protein impact on iron metabolism |
title_full_unstemmed | HFE protein impact on iron metabolism |
title_short | HFE protein impact on iron metabolism |
title_sort | hfe protein impact on iron metabolism |
topic | Review Article/Praca Poglądowa |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8522971/ https://www.ncbi.nlm.nih.gov/pubmed/28796976 http://dx.doi.org/10.34763/devperiodmed.20172102.8590 |
work_keys_str_mv | AT kaczorowskahacbarbara hfeproteinimpactonironmetabolism AT kaczorjanjacek hfeproteinimpactonironmetabolism |