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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
MeSH Review


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Disease relevance of Hemochromatosis

  • We measured iron, TIBC, and TRF concentrations in 94 control subjects, 59 patients with alcoholic liver disease (ALD), and 20 with proven genetic hemochromatosis (GH) [1].
  • Genetic hemochromatosis (GH) is an iron overload disorder mainly due to the C282Y mutation of the HFE gene [2].
  • RESULTS: Heavy alcohol intake (>60 g of ethanol per day for at least 1 decade) was found in 33.1% of cases, hepatitis B virus (HBV) infection in 9.4%, HCV in 19.8%, hemochromatosis in 1.3%, alcohol and HBV in 12.0%, alcohol and HCV in 16.1%, HBV and HCV in 3.1%, and no factor in 5.2% [3].
  • As observed in HFE hemochromatosis, the beta-thalassemia trait seems to aggravate the clinical picture of patients lacking TFR2, favoring higher rates of iron accumulation probably by activation of the erythroid iron regulator [4].
  • Patients with chronic liver disease usually exhibit low plasma levels of testosterone with loss of libido and potency; this is also valid in male patients suffering from idiopathic hemochromatosis (IHC), in whom nowadays the diagnosis is made at an earlier age [5].

High impact information on Hemochromatosis

  • CONCLUSIONS: Hereditary hemochromatosis can occur in adults who do not have pathogenic mutations in the hemochromatosis gene [6].
  • This points to different kinetics of intestinal iron uptake between iron deficiency and HFE hemochromatosis and also indicates that duodenal iron accumulation in HFE and non-HFE hemochromatosis is pathophysiologically different [7].
  • Juvenile hemochromatosis (JH) is an autosomal recessive disorder that leads to severe iron loading in the 2d to 3d decade of life [8].
  • Hepcidin is decreased in TFR2 hemochromatosis [9].
  • RNA-bandshift assays showed a significant increase in IRP activity in monocytes from 16 patients with untreated GH compared with 28 control subjects (1.5-fold) and five patients with secondary hemochromatosis (SH) with similar iron burden (fourfold) [10].

Chemical compound and disease context of Hemochromatosis


Biological context of Hemochromatosis


Gene context of Hemochromatosis


Analytical, diagnostic and therapeutic context of Hemochromatosis

  • LightCycler PCR assay for simultaneous detection of the H63D and S65C mutations in the HFE hemochromatosis gene based on opposite melting temperature shifts [21].


  1. Transferrin index: an alternative method for calculating the iron saturation of transferrin. Beilby, J., Olynyk, J., Ching, S., Prins, A., Swanson, N., Reed, W., Harley, H., Garcia-Webb, P. Clin. Chem. (1992) [Pubmed]
  2. Bone mineral density in men with genetic hemochromatosis and HFE gene mutation. Guggenbuhl, P., Deugnier, Y., Boisdet, J.F., Rolland, Y., Perdriger, A., Pawlotsky, Y., Chalès, G. Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA. (2005) [Pubmed]
  3. Etiology of hepatocellular carcinoma influences clinical and pathologic features but not patient survival. Gelatti, U., Donato, F., Tagger, A., Fantoni, C., Portolani, N., Ribero, M.L., Martelli, C., Trevisi, P., Covolo, L., Simonati, C., Nardi, G. Am. J. Gastroenterol. (2003) [Pubmed]
  4. Type 3 hemochromatosis and beta-thalassemia trait. Riva, A., Mariani, R., Bovo, G., Pelucchi, S., Arosio, C., Salvioni, A., Vergani, A., Piperno, A. Eur. J. Haematol. (2004) [Pubmed]
  5. Testosterone treatment of men with idiopathic hemochromatosis. Kley, H.K., Stremmel, W., Kley, J.B., Schlaghecke, R. The Clinical investigator. (1992) [Pubmed]
  6. Hereditary hemochromatosis in adults without pathogenic mutations in the hemochromatosis gene. Pietrangelo, A., Montosi, G., Totaro, A., Garuti, C., Conte, D., Cassanelli, S., Fraquelli, M., Sardini, C., Vasta, F., Gasparini, P. N. Engl. J. Med. (1999) [Pubmed]
  7. Duodenal cytochrome b and hephaestin expression in patients with iron deficiency and hemochromatosis. Zoller, H., Theurl, I., Koch, R.O., McKie, A.T., Vogel, W., Weiss, G. Gastroenterology (2003) [Pubmed]
  8. Juvenile hemochromatosis locus maps to chromosome 1q. Roetto, A., Totaro, A., Cazzola, M., Cicilano, M., Bosio, S., D'Ascola, G., Carella, M., Zelante, L., Kelly, A.L., Cox, T.M., Gasparini, P., Camaschella, C. Am. J. Hum. Genet. (1999) [Pubmed]
  9. Hepcidin is decreased in TFR2 hemochromatosis. Nemeth, E., Roetto, A., Garozzo, G., Ganz, T., Camaschella, C. Blood (2005) [Pubmed]
  10. Inappropriately high iron regulatory protein activity in monocytes of patients with genetic hemochromatosis. Cairo, G., Recalcati, S., Montosi, G., Castrusini, E., Conte, D., Pietrangelo, A. Blood (1997) [Pubmed]
  11. Effect of ascorbic acid on desferrioxamine-induced urinary iron excretion in idiopathic hemochromatosis. Conte, D., Brunelli, L., Ferrario, L., Mandelli, C., Quatrini, M., Velio, P., Bianchi, P.A. Acta Haematol. (1984) [Pubmed]
  12. Pancreatic islets after repeated injection of Fe3+-NTA. An ultrastructural study of diabetic rats. Shirasuga, N., Hayashi, K., Awai, M. Acta Pathol. Jpn. (1989) [Pubmed]
  13. Multigenic control of hepatic iron loading in a murine model of hemochromatosis. Bensaid, M., Fruchon, S., Mazères, C., Bahram, S., Roth, M.P., Coppin, H. Gastroenterology (2004) [Pubmed]
  14. Intestinal absorption of iron in HFE-1 hemochromatosis: local or systemic process? Brissot, P., Troadec, M.B., Loréal, O. J. Hepatol. (2004) [Pubmed]
  15. Risk of disease in siblings of patients with hereditary hemochromatosis. Nelson, R.L., Persky, V., Davis, F., Becker, E. Digestion (2001) [Pubmed]
  16. Genetic hemochromatosis update. Brissot, P., Le Lan, C., Lorho, R., Gaboriau, F., Lescoat, G., Loréal, O. Acta Gastroenterol. Belg. (2005) [Pubmed]
  17. Structural analysis of the HLA-A/HLA-F subregion: precise localization of two new multigene families closely associated with the HLA class I sequences. Pichon, L., Carn, G., Bouric, P., Giffon, T., Chauvel, B., Lepourcelet, M., Mosser, J., Legall, J.Y., David, V. Genomics (1996) [Pubmed]
  18. Unsaturated iron binding capacity and transferrin saturation are equally reliable in detection of HFE hemochromatosis. Murtagh, L.J., Whiley, M., Wilson, S., Tran, H., Bassett, M.L. Am. J. Gastroenterol. (2002) [Pubmed]
  19. A homozygous HAMP mutation in a multiply consanguineous family with pseudo-dominant juvenile hemochromatosis. Delatycki, M.B., Allen, K.J., Gow, P., MacFarlane, J., Radomski, C., Thompson, J., Hayden, M.R., Goldberg, Y.P., Samuels, M.E. Clin. Genet. (2004) [Pubmed]
  20. Identification and characterization of the human HCG V gene product as a novel inhibitor of protein phosphatase-1. Zhang, J., Zhang, L., Zhao, S., Lee, E.Y. Biochemistry (1998) [Pubmed]
  21. LightCycler PCR assay for simultaneous detection of the H63D and S65C mutations in the HFE hemochromatosis gene based on opposite melting temperature shifts. Bollhalder, M., Mura, C., Landt, O., Maly, F.E. Clin. Chem. (1999) [Pubmed]
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