Non-HFE hemochromatosis: pathophysiological and diagnostic aspects.

Abstract

Rare genetic iron overload diseases are an evolving field due to major advances in genetics and molecular biology. Genetic iron overload has long been confined to the classical type 1 hemochromatosis related to the HFE C282Y mutation. Breakthroughs in the understanding of iron metabolism biology and molecular mechanisms led to the discovery of new genes and subsequently, new types of hemochromatosis. To date, four types of hemochromatosis have been identified: HFE-related or type1 hemochromatosis, the most frequent form in Caucasians, and four rare types, named type 2 (A and B) hemochromatosis (juvenile hemochromatosis due to hemojuvelin and hepcidin mutation), type 3 hemochromatosis (related to transferrin receptor 2 mutation), and type 4 (A and B) hemochromatosis (ferroportin disease). The diagnosis relies on the comprehension of the involved physiological defect that can now be explored by biological and imaging tools, which allow non-invasive assessment of iron metabolism. A multidisciplinary approach is essential to support the physicians in the diagnosis and management of those rare diseases.

• Authors: Edouard Bardou-Jacquet, Zeineb Ben Ali, Marie-Pascale Beaumont-Epinette, Olivier Loreal, Anne-Marie Jouanolle, Pierre Brissot
• Journal: Clinics and research in hepatology and gastroenterology (Clin Res Hepatol Gastroenterol) Vol. 38 Issue 2 Pg. 143-54 (Apr 2014) ISSN: 2210-741X [Electronic] France
• PMID: 24321703 (Publication Type: Journal Article, Review)
• Copyright: Copyright © 2013 Elsevier Masson SAS. All rights reserved.

Chemical References

• Benzoates
• Cation Transport Proteins
• HFE protein, human
• Hemochromatosis Protein
• Hepcidins
• Histocompatibility Antigens Class I
• Iron Chelating Agents
• Membrane Proteins
• Receptors, Transferrin
• TFR2 protein, human
• Transferrin
• Triazoles
• metal transporting protein 1
• Iron
• Deferasirox

Topics

• Alcohol Drinking (physiopathology)
• Benzoates (therapeutic use)
• Biopsy
• Cataract (congenital, physiopathology)
• Cation Transport Proteins (genetics)
• Decision Trees
• Deferasirox
• Diet
• Gaucher Disease (physiopathology)
• Genetic Testing
• Hemochromatosis (diagnosis, etiology, physiopathology, therapy)
• Hemochromatosis Protein
• Hepcidins (deficiency, physiology)
• Histocompatibility Antigens Class I (genetics)
• Humans
• Inflammation (physiopathology)
• Iron (metabolism)
• Iron Chelating Agents (therapeutic use)
• Iron Metabolism Disorders (congenital, physiopathology)
• Iron Overload (physiopathology)
• Liver (injuries, pathology)
• Macrophage Activation Syndrome (physiopathology)
• Magnetic Resonance Imaging
• Membrane Proteins (genetics)
• Metabolic Syndrome (physiopathology)
• Mutation
• Phlebotomy
• Receptors, Transferrin (genetics)
• Transferrin (analysis)
• Triazoles (therapeutic use)