title: Pathophysiological consequences and benefits ofHFEmutations: 20 years of research.
abstract: Mutations in theHFE(hemochromatosis) gene cause hereditary hemochromatosis, an iron overload disorder that is hallmarked by excessive accumulation of iron in parenchymal organs. TheHFEmutation p.Cys282Tyr is pathologically most relevant and occurs in the Caucasian population with a carrier frequency of up to 1 in 8 in specific European regions. Despite this high prevalence, the mutation causes a clinically relevant phenotype only in a minority of cases. In this review, we summarize historical facts and recent research findings about hereditary hemochromatosis, and outline the pathological consequences of the associated gene defects. In addition, we discuss potential advantages ofHFEmutations in asymptomatic carriers.
authors.affiliation: Molecular Medicine Partnership Unit (MMPU), Heidelberg, Germany.|European Molecular Biology Laboratory (EMBL), Heidelberg, Germany.|Department of Pediatric Oncology, Hematology and Immunology, University of Heidelberg, Germany.
authors.forename: Ina
authors.initials: I
authors.lastname: Hollerer
authors.affiliation: Private Dental Practice, Zürich, Switzerland.
authors.forename: André
authors.initials: A
authors.lastname: Bachmann
authors.affiliation: Molecular Medicine Partnership Unit (MMPU), Heidelberg, Germany martina.muckenthaler@med.uni-heidelberg.de.|Department of Pediatric Oncology, Hematology and Immunology, University of Heidelberg, Germany.
authors.forename: Martina U
authors.initials: MU
authors.lastname: Muckenthaler
mesh_terms: D000544:Alzheimer Disease / Q000235:genetics / Q000378:metabolism; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics / Q000378:metabolism; D050197:Atherosclerosis / Q000235:genetics / Q000378:metabolism; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006432:Hemochromatosis / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D000071020:Hemochromatosis Protein / Q000235:genetics*; D006801:Humans; D007501:Iron / Q000378:metabolism; D009154:Mutation; D010300:Parkinson Disease / Q000235:genetics / Q000378:metabolism
chemical_list: D000071020:Hemochromatosis Protein; D007501:Iron