Hereditary haemochromatosis.
Haemochromatosis should currently refer to hereditary iron overload disorders presenting with a definite and common phenotype characterised by normal erythropoiesis, increased transferrin saturation and ferritin and primarily parenchymal iron deposition related to innate low (but normally regulated) production of the hepatic peptide hormone hepcidin. Since the discovery of the haemochromatosis gene (HFE) in 1996, several novel gene defects have been detected, explaining the mechanism and diversity of iron overload diseases. Overall, at least four main types of hereditary haemochromatosis (HH) have been identified. This review describes the systematic diagnostic and therapeutic strategy and pitfalls for patients suspected for HH and their relatives.
Radboud University Medical Centre, Department of General Internal Medicine 463, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands. m.janssen@aig.umcn.nl
M C H
MC
Janssen
D W
DW
Swinkels
D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006432:Hemochromatosis / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism / Q000628:therapy; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D007501:Iron / Q000097:blood / Q000378:metabolism*; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D018579:Patient Selection; D010375:Pedigree; D010641:Phenotype; D011237:Predictive Value of Tests; D016896:Treatment Outcome
C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D007501:Iron