Genetic iron overload disorders.

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.

Copyright © 2020. Published by Elsevier Ltd.

Overview publication

TitleGenetic iron overload disorders.
Issue nameMolecular aspects of medicine
Issue numberv75:100896
AuthorsCorradini E, Buzzetti E & Pietrangelo A
KeywordsFerroportin disease, Genetics, Hemochromatosis, Hyperferritinemia, Iron overload
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