title: Haemochromatosis.
abstract: Haemochromatosis is now known to be an iron-storage disease with genetic heterogeneity but with a final common metabolic pathway resulting in inappropriately low production of the hormone hepcidin. This leads to increase in intestinal absorption and deposition of excessive amounts of iron in parenchymal cells which in turn results in eventual tissue damage and organ failure. A clinical enigma has been the variable clinical expression with some patients presenting with hepatic cirrhosis at a young age and others almost asymptomatic for life. Research is unravelling this puzzle by identifying environmental factors-especially alcohol consumption-and associated modifying genes that modulate phenotypic expression. A high index of suspicion is required for early diagnosis but this can lead to presymptomatic therapy and a normal life expectancy. Venesection (phlebotomy) therapy remains the mainstay of therapy, but alternative therapies are the subject of current research.
authors.affiliation: Centre for the Advancement of Clinical Research, Royal Brisbane and Women's Hospital, Brisbane, The University of Queensland, Brisbane, Australia. Electronic address: lawrie.powell@qimrberghofer.edu.au.
authors.forename: Lawrie W
authors.initials: LW
authors.lastname: Powell
authors.affiliation: Faculty of Medicine and Biomedical Sciences, The University of Queensland, Brisbane, Australia.
authors.forename: Rebecca C
authors.initials: RC
authors.lastname: Seckington
authors.affiliation: University Hospital and University of Rennes 1, Rennes, France.
authors.forename: Yves
authors.initials: Y
authors.lastname: Deugnier
mesh_terms: D000428:Alcohol Drinking / Q000009:adverse effects*; D027682:Cation Transport Proteins / Q000235:genetics; D019468:Disease Management; D004781:Environmental Exposure; D005060:Europe / Q000453:epidemiology; D005293:Ferritins / Q000097:blood; D005820:Genetic Testing; D005838:Genotype; D006432:Hemochromatosis / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D000071020:Hemochromatosis Protein; D064451:Hepcidins / Q000172:deficiency*; D015395:Histocompatibility Antigens Class I / Q000235:genetics; D006801:Humans; D007501:Iron / Q000378:metabolism*; D008099:Liver / Q000187:drug effects / Q000378:metabolism*; D008107:Liver Diseases / Q000209:etiology / Q000503:physiopathology / Q000628:therapy; D008403:Mass Screening / Q000379:methods / Q000592:standards; D008565:Membrane Proteins / Q000235:genetics; D009154:Mutation; D010641:Phenotype; D018962:Phlebotomy; D020641:Polymorphism, Single Nucleotide; D011990:Receptors, Transferrin / Q000235:genetics; D012307:Risk Factors; D012737:Sex Factors; D035501:Uncertainty; D044465:White People / Q000235:genetics; D000098742:Ferroportin
chemical_list: D027682:Cation Transport Proteins; C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D064451:Hepcidins; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D011990:Receptors, Transferrin; C503640:TFR2 protein, human; D000098742:Ferroportin; D005293:Ferritins; D007501:Iron