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What’s Important and New in Hemochromatosis?

Major advances in the understanding of genetic iron overload have led to a clarification of the nosology and terminology of the related diseases. The term hemochromatosis should be reserved to the entities where iron overload is related to hepcidin deficiency or hepcidin resistance. The diagnosis of...

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Autores principales: Brissot, Pierre, Brissot, Eolia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Atlantis Press 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8432403/
https://www.ncbi.nlm.nih.gov/pubmed/34595455
http://dx.doi.org/10.2991/chi.k.200726.001
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author Brissot, Pierre
Brissot, Eolia
author_facet Brissot, Pierre
Brissot, Eolia
author_sort Brissot, Pierre
collection PubMed
description Major advances in the understanding of genetic iron overload have led to a clarification of the nosology and terminology of the related diseases. The term hemochromatosis should be reserved to the entities where iron overload is related to hepcidin deficiency or hepcidin resistance. The diagnosis of hemochromatosis is non-invasive, based on clinical examination, blood investigations and, whenever possible, magnetic resonance imaging. Phlebotomies remain the mainstay of the treatment, but new therapeutic approaches should, in the future, constitute a valuable advance, hopefully both as an adjunct to bleeding in the induction phase and as its replacement in the maintenance phase. The goal of the present review is to update the terminology of hemochromatosis in light of major pathophysiological advances, and the main features of its diagnostic and therapeutic approaches.
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spelling pubmed-84324032021-09-29 What’s Important and New in Hemochromatosis? Brissot, Pierre Brissot, Eolia Clin Hematol Int Review Major advances in the understanding of genetic iron overload have led to a clarification of the nosology and terminology of the related diseases. The term hemochromatosis should be reserved to the entities where iron overload is related to hepcidin deficiency or hepcidin resistance. The diagnosis of hemochromatosis is non-invasive, based on clinical examination, blood investigations and, whenever possible, magnetic resonance imaging. Phlebotomies remain the mainstay of the treatment, but new therapeutic approaches should, in the future, constitute a valuable advance, hopefully both as an adjunct to bleeding in the induction phase and as its replacement in the maintenance phase. The goal of the present review is to update the terminology of hemochromatosis in light of major pathophysiological advances, and the main features of its diagnostic and therapeutic approaches. Atlantis Press 2020-08-05 /pmc/articles/PMC8432403/ /pubmed/34595455 http://dx.doi.org/10.2991/chi.k.200726.001 Text en © 2020 International Academy for Clinical Hematology. Publishing services by Atlantis Press International B.V. https://creativecommons.org/licenses/by-nc/4.0/This is an open access article distributed under the CC BY-NC 4.0 license (http://creativecommons.org/licenses/by-nc/4.0/ (https://creativecommons.org/licenses/by-nc/4.0/) ).
spellingShingle Review
Brissot, Pierre
Brissot, Eolia
What’s Important and New in Hemochromatosis?
title What’s Important and New in Hemochromatosis?
title_full What’s Important and New in Hemochromatosis?
title_fullStr What’s Important and New in Hemochromatosis?
title_full_unstemmed What’s Important and New in Hemochromatosis?
title_short What’s Important and New in Hemochromatosis?
title_sort what’s important and new in hemochromatosis?
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8432403/
https://www.ncbi.nlm.nih.gov/pubmed/34595455
http://dx.doi.org/10.2991/chi.k.200726.001
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