title: 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: University Hospital of Rennes, French reference center for rare iron overload diseases of genetic origin, Rennes, France; University of Rennes1, Inserm UMR 991, 35000 Rennes, France; University Hospital of Rennes, Liver disease department, Rennes, France. Electronic address: edouard.bardou-jacquet@chu-rennes.fr.
authors: Edouard
authors: E
authors: Bardou-Jacquet
authors: University Hospital of Rennes, French reference center for rare iron overload diseases of genetic origin, Rennes, France; University Hospital of Rennes, Liver disease department, Rennes, France.
authors: Zeineb
authors: Z
authors: Ben Ali
authors: University Hospital of Rennes, French reference center for rare iron overload diseases of genetic origin, Rennes, France; University Hospital of Rennes, Molecular Genetics Department, Rennes, France.
authors: Marie-Pascale
authors: MP
authors: Beaumont-Epinette
authors: University Hospital of Rennes, French reference center for rare iron overload diseases of genetic origin, Rennes, France; University of Rennes1, Inserm UMR 991, 35000 Rennes, France.
authors: Olivier
authors: O
authors: Loreal
authors: University Hospital of Rennes, French reference center for rare iron overload diseases of genetic origin, Rennes, France; University Hospital of Rennes, Molecular Genetics Department, Rennes, France.
authors: Anne-Marie
authors: AM
authors: Jouanolle
authors: University Hospital of Rennes, French reference center for rare iron overload diseases of genetic origin, Rennes, France; University of Rennes1, Inserm UMR 991, 35000 Rennes, France; University Hospital of Rennes, Liver disease department, Rennes, France.
authors: Pierre
authors: P
authors: Brissot
mesh_terms: D000428:Alcohol Drinking / Q000503:physiopathology; D001565:Benzoates / Q000627:therapeutic use; D001706:Biopsy; D002386:Cataract / Q000151:congenital / Q000503:physiopathology; D027682:Cation Transport Proteins / Q000235:genetics; D003663:Decision Trees; D000077588:Deferasirox; D004032:Diet; D005776:Gaucher Disease / Q000503:physiopathology; D005820:Genetic Testing; D006432:Hemochromatosis / Q000175:diagnosis* / Q000209:etiology / Q000503:physiopathology* / Q000628:therapy; D000071020:Hemochromatosis Protein; D064451:Hepcidins / Q000172:deficiency / Q000502:physiology; D015395:Histocompatibility Antigens Class I / Q000235:genetics; D006801:Humans; D007249:Inflammation / Q000503:physiopathology; D007501:Iron / Q000378:metabolism; D007502:Iron Chelating Agents / Q000627:therapeutic use; D019189:Iron Metabolism Disorders / Q000151:congenital / Q000503:physiopathology; D019190:Iron Overload / Q000503:physiopathology; D008099:Liver / Q000293:injuries / Q000473:pathology; D055501:Macrophage Activation Syndrome / Q000503:physiopathology; D008279:Magnetic Resonance Imaging; D008565:Membrane Proteins / Q000235:genetics; D024821:Metabolic Syndrome / Q000503:physiopathology; D009154:Mutation; D018962:Phlebotomy; D011990:Receptors, Transferrin / Q000235:genetics; D014168:Transferrin / Q000032:analysis; D014230:Triazoles / Q000627:therapeutic use; D000098742:Ferroportin
chemical_list: D001565:Benzoates; D027682:Cation Transport Proteins; C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D064451:Hepcidins; D015395:Histocompatibility Antigens Class I; D007502:Iron Chelating Agents; D008565:Membrane Proteins; D011990:Receptors, Transferrin; C503640:TFR2 protein, human; D014168:Transferrin; D014230:Triazoles; D000098742:Ferroportin; D007501:Iron; D000077588:Deferasirox