title: Diagnostic evaluation of hereditary hemochromatosis (HFE and non-HFE).
abstract: The management and understanding of hereditary hemochromatosis have evolved with recent advances in iron biology and the associated discovery of numerous genes involved in iron metabolism. HFE-related (type 1) hemochromatosis remains the most frequent form, characterized by C282Y mutation homozygosity. Rare forms of hereditary hemochromatosis include type 2 (A and B, juvenile hemochromatosis caused by HJV and HAMP mutation), type 3 (related to TFR2 mutation), and type 4 (A and B, ferroportin disease). The diagnostic evaluation relies on comprehension of the involved pathophysiologic defect, and careful characterization of the phenotype, which gives clues to guide appropriate genetic testing.
authors: CHU Rennes, French Reference Center for Rare Iron Overload Diseases of Genetic Origin, 2 rue Henri le guilloux, F-35033 Rennes, France; INSERM, UMR 991, 2 rue Henri le guilloux, F-35000 Rennes, France; CHU Rennes, Liver disease department, 2 rue Henri le guilloux, F-35033 Rennes, France. Electronic address: edouard.bardou-jacquet@chu-rennes.fr.
authors: Edouard
authors: E
authors: Bardou-Jacquet
authors: CHU Rennes, French Reference Center for Rare Iron Overload Diseases of Genetic Origin, 2 rue Henri le guilloux, F-35033 Rennes, France; INSERM, UMR 991, 2 rue Henri le guilloux, F-35000 Rennes, France; CHU Rennes, Liver disease department, 2 rue Henri le guilloux, F-35033 Rennes, France.
authors: Pierre
authors: P
authors: Brissot
mesh_terms: D005820:Genetic Testing; D006432:Hemochromatosis / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D006801:Humans; D007501:Iron / Q000378:metabolism
chemical_list: D007501:Iron
keywords: Ferroportin; HFE; Hemochromatosis; Hemojuvelin; Hepcidin; Phlebotomy; TFR2