title: [Diagnosis and treatment of genetic haemochromatosis].
abstract: Genetic haemochromatosis is a complex disorder/disease, which can be caused by a multiplicity of mutations in genes involved in iron metabolism being located on different chromosomes. In Caucasians, mutations in the HFE-gene account for the most common form of haemochromatosis (type 1). Non-HFE-haemochromatoses are less frequent and consist of juvenile haemochromatosis (type 2A and 2B) and TRF2-related haemochromatosis (type 3), which all respond to phlebotomies. The others comprise ferroportin disease (type 4A) atypical ferroportin disease (type 4B), acoeruloplasminaemia, atransferrinaemia and DMT1-associated haemochromatosis.
authors: Rheumatologisk Klinik TA, Rigshospitalet, Blegdamsvej 9, 2100 København Ø, Denmark. nils.mil@dadlnet.dk
authors: Nils Thorm
authors: NT
authors: Milman
mesh_terms: D023181:Antimicrobial Cationic Peptides / Q000378:metabolism; D006432:Hemochromatosis / Q000150:complications / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D007502:Iron Chelating Agents / Q000627:therapeutic use; D019190:Iron Overload / Q000235:genetics / Q000378:metabolism / Q000628:therapy; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation
chemical_list: D023181:Antimicrobial Cationic Peptides; C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D007502:Iron Chelating Agents; D008565:Membrane Proteins