Genetic iron overload disorders.
Ferroportin disease
Genetics
Hemochromatosis
Hyperferritinemia
Iron overload
Journal
Molecular aspects of medicine
ISSN: 1872-9452
Titre abrégé: Mol Aspects Med
Pays: England
ID NLM: 7603128
Informations de publication
Date de publication:
10 2020
10 2020
Historique:
received:
24
06
2020
revised:
11
08
2020
accepted:
17
08
2020
pubmed:
12
9
2020
medline:
25
9
2021
entrez:
11
9
2020
Statut:
ppublish
Résumé
Due to its pivotal role in orchestrating vital cellular functions and metabolic processes, iron is an essential component of the human body and a main micronutrient in the human diet. However, excess iron causes an increased production of reactive oxygen species leading to cell dysfunction or death, tissue damage and organ disease. Iron overload disorders encompass a wide spectrum of pathological conditions of hereditary or acquired origin. A number of 'iron genes' have been identified as being associated with hereditary iron overload syndromes, the most common of which is hemochromatosis. Although linked to at least five different genes, hemochromatosis is recognized as a unique syndromic entity based on a common pathogenetic mechanism leading to excessive entry of unneeded iron into the bloodstream. In this review, we focus on the pathophysiologic basis and clinical aspects of the most common genetic iron overload syndromes in humans.
Identifiants
pubmed: 32912773
pii: S0098-2997(20)30073-X
doi: 10.1016/j.mam.2020.100896
pii:
doi:
Substances chimiques
Iron
E1UOL152H7
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
100896Informations de copyright
Copyright © 2020. Published by Elsevier Ltd.