| Title | Hereditary haemochromatosis. | | Author(s) | Janssen MC, Swinkels DW | | Institution | Radboud University Medical Centre, Department of General Internal Medicine 463, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands. m.janssen@aig.umcn.nl | | Source | Best Pract Res Clin Gastroenterol 2009; 23(2):171-83. | | Abstract | 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. | | Language | eng | | Pub Type(s) | Journal Article
| | PubMed ID | 19414144 |
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