Iron Man: Non-HFE Hemochromatosis Without Significant Fibrosis

Hemochromatosis is a genetic disorder marked by abnormally high levels of intestinal iron absorption leading to severe end-organ damage. It is classically associated with HFE gene mutations, including C282Y and H63D, but in recent years, many non-HFE mutations along with novel variants have been dis...

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Autores principales: Chaudhry, Hunza, Sohal, Aalam, Petrosyan, Arpine, Laput, Gieric, Roytman, Marina, Prajapati, Devang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9875996/
https://www.ncbi.nlm.nih.gov/pubmed/36713280
http://dx.doi.org/10.14309/crj.0000000000000982
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author Chaudhry, Hunza
Sohal, Aalam
Petrosyan, Arpine
Laput, Gieric
Roytman, Marina
Prajapati, Devang
author_facet Chaudhry, Hunza
Sohal, Aalam
Petrosyan, Arpine
Laput, Gieric
Roytman, Marina
Prajapati, Devang
author_sort Chaudhry, Hunza
collection PubMed
description Hemochromatosis is a genetic disorder marked by abnormally high levels of intestinal iron absorption leading to severe end-organ damage. It is classically associated with HFE gene mutations, including C282Y and H63D, but in recent years, many non-HFE mutations along with novel variants have been discovered, particularly among non-Whites. We describe a case of an elderly Japanese patient who was evaluated for markedly elevated ferritin found to have hemochromatosis, with no hepatic fibrosis while being negative for HFE and common non-HFE gene mutations.
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spelling pubmed-98759962023-01-26 Iron Man: Non-HFE Hemochromatosis Without Significant Fibrosis Chaudhry, Hunza Sohal, Aalam Petrosyan, Arpine Laput, Gieric Roytman, Marina Prajapati, Devang ACG Case Rep J Case Report Hemochromatosis is a genetic disorder marked by abnormally high levels of intestinal iron absorption leading to severe end-organ damage. It is classically associated with HFE gene mutations, including C282Y and H63D, but in recent years, many non-HFE mutations along with novel variants have been discovered, particularly among non-Whites. We describe a case of an elderly Japanese patient who was evaluated for markedly elevated ferritin found to have hemochromatosis, with no hepatic fibrosis while being negative for HFE and common non-HFE gene mutations. Wolters Kluwer 2023-01-25 /pmc/articles/PMC9875996/ /pubmed/36713280 http://dx.doi.org/10.14309/crj.0000000000000982 Text en © 2023 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of The American College of Gastroenterology. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND) (https://creativecommons.org/licenses/by-nc-nd/4.0/) , where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal.
spellingShingle Case Report
Chaudhry, Hunza
Sohal, Aalam
Petrosyan, Arpine
Laput, Gieric
Roytman, Marina
Prajapati, Devang
Iron Man: Non-HFE Hemochromatosis Without Significant Fibrosis
title Iron Man: Non-HFE Hemochromatosis Without Significant Fibrosis
title_full Iron Man: Non-HFE Hemochromatosis Without Significant Fibrosis
title_fullStr Iron Man: Non-HFE Hemochromatosis Without Significant Fibrosis
title_full_unstemmed Iron Man: Non-HFE Hemochromatosis Without Significant Fibrosis
title_short Iron Man: Non-HFE Hemochromatosis Without Significant Fibrosis
title_sort iron man: non-hfe hemochromatosis without significant fibrosis
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9875996/
https://www.ncbi.nlm.nih.gov/pubmed/36713280
http://dx.doi.org/10.14309/crj.0000000000000982
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