Abstract
The field of hereditary iron overload has known, in the recent period, deep changes mainly related to major advances in molecular biology. It encompasses now a series of genetic entities. The mechanistic understanding of iron overload development and iron toxicity has greatly improved. The diagnostic approach has become essentially noninvasive with a major role for biological tests. From the therapeutic viewpoint, the phlebotomy treatment is now enriched by the possibility of resorting to oral chelation and by innovative perspectives directly linked to our improvement in the molecular understanding of these diseases.
Copyright © 2009 Elsevier Masson SAS. All rights reserved.
Publication types
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Research Support, Non-U.S. Gov't
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Review
MeSH terms
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Antimicrobial Cationic Peptides / deficiency
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Antimicrobial Cationic Peptides / genetics
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Cation Transport Proteins / deficiency
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Cation Transport Proteins / genetics
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Ceruloplasmin / deficiency
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Ceruloplasmin / genetics
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Chelation Therapy
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Forecasting
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Genetic Counseling
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Hemochromatosis / classification
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Hemochromatosis / diagnosis
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Hemochromatosis / drug therapy
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Hemochromatosis / genetics
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Hemochromatosis / therapy
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Hemochromatosis Protein
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Hemosiderosis / genetics
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Hemosiderosis / metabolism
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Hepcidins
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Histocompatibility Antigens Class I / genetics
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Humans
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Iron / metabolism
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Iron Metabolism Disorders / genetics
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Iron Overload / diagnosis
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Iron Overload / drug therapy
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Iron Overload / genetics*
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Iron Overload / physiopathology
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Iron Overload / therapy
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Liver / metabolism
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Membrane Proteins / deficiency
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Membrane Proteins / genetics
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Molecular Diagnostic Techniques
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Neurodegenerative Diseases / genetics
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Phlebotomy
Substances
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Antimicrobial Cationic Peptides
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Cation Transport Proteins
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HFE protein, human
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Hemochromatosis Protein
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Hepcidins
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Histocompatibility Antigens Class I
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Membrane Proteins
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metal transporting protein 1
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Iron
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Ceruloplasmin
Supplementary concepts
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Familial apoceruloplasmin deficiency