HFE hemochromatosis: Pathogenic and diagnostic approach;Hémochromatose HFE: Approche pathogénique et diagnostique

Transfusion Clinique et Biologique

Volumn 12, Issue 2 SPEC. ISS., 2005, Pages 77-82

  Brissot, P ^a   Le Lan, C ^a   Troadec, M B ^a   Lorho, R ^a   Ropert, M ^a   Lescoat, G ^a   Loreal O ^a  

^a PONTCHAILLOU UNIVERSITY HOSPITAL   (France)

Author keywords

Ferroportin; Hemochromatosis; Hepcidin; HFE; Iron overload; Transferrin; Transferrin receptor

Indexed keywords

HEPCIDIN; HFE PROTEIN;

ARTICLE; DIAGNOSTIC VALUE; DIFFERENTIAL DIAGNOSIS; ERYTHROPHAGOCYTOSIS; GENE MUTATION; GENETIC DISORDER; GENETIC VARIABILITY; HEMOCHROMATOSIS; HOMEOSTASIS; HUMAN; INTESTINE ABSORPTION; IRON ABSORPTION; IRON BLOOD LEVEL; IRON OVERLOAD; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; SECRETION;

EID: 20444428665     PISSN: 12467820     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.tracli.2005.04.040     Document Type: Short Survey

References (42)

1. J.N. Feder, A. Gnirke, W. Thomas, Z. Tshuchihashi, D.A. Ruddy, and A. Basava A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis Nat. Genet. 13 1996 399 408
2. P. Brissot, M.B. Troadec, and O. Loŕal The clinical relevance of new insights in iron transport and metabolism Curr. Hematol. Rep. 3 2004 107 115
3. K.J.H. Robson, A.T. Merryweather-Clarke, E. Cadet, V. Viprakasit, M.G. Zaahl, and J.J. Pointon Recent advances in understanding haemochromatosis: a transition state J. Med. Genet. 41 2004 721 730
4. A. Pietrangelo Non-HFE hemochromatosis Hepatol 39 2004 21 29
5. C. Pigeon, G. Ilyin, B. Courselaud, P. Leroyer, B. Turlin, and P. Brissot A new mouse liver-specific gene, encoding a protein homologous to human antimicrobial peptide hepcidin, is overexpressed during iron overload J. Biol. Chem. 276 2001 7811 7819
6. O. Loŕal, C. Pigeon, M.B. Troadec, L. Detivaud, B. Turlin, and B. Courselaud Hepcidin in iron metabolism Curr. Protein Pept. Sci. 2005 (sous presse)
7. G. Nicolas, M. Bennoun, I. Devaux, C. Beaumont, B. Grandchamp, and A. Kahn Lack of hepcidin gene expression and severe tissue iron overload in upstream stimulatory factor 2 (USF2) knockout mice Proc. Natl. Acad. Sci. USA 98 2001 8780 8785
8. G. Nicolas, M. Bennoun, A. Porteu, S. Mativet, C. Beaumont, and B. Grandchamp Severe iron deficiency anemia in transgenic mice expressing liver hepcidin Proc. Natl. Acad. Sci. USA 99 2002 4596 4601
9. K.A. Ahmad, J.R. Ahmann, M.C. Migas, A. Waheed, R.S. Britton, and B.R. Bacon Decreased liver hepcidin expression in the HFE knockout mouse Blood Cells Mol. Dis. 29 2002 361 366
10. G. Nicolas, L. Viatte, D.Q. Lou, M. Bennoun, C. Beaumont, and A. Kahn Constitutive hepcidin expression prevents iron overload in a mouse model of hemochromatosis Nat. Genet. 34 2003 97 101
11. S.G. Gehrke, H. Kulaksiz, T. Herrmann, H.D. Riedel, K. Bents, and C. Vetlkamp Expression of hepcidin in hereditary hemochromatosis: evidence for a regulation in response to serum transferrin saturation and non-transferrin-bound iron Blood 102 2003 371 376
12. K.R. Bridle, D.M. Frazer, S.J. Wilkins, J.L. Dixon, D.M. Purdie, and D.H. Crawford Disrupted hepcidin regulation in HFE-associated haemochromatosis and the liver as a regulator of body iron homeostasis Lancet 361 2003 669 673
13. T. Ganz Hepcidin, a key regulator of iron metabolism and mediator of anemia of inflammation Blood 102 2003 783 788
14. E. Nemeth, E.V. Valore, M. Territo, G. Schiller, A. Lichtenstein, and T. Ganz Hepcidin, a putative mediator of anemia of inflammation, is a type II acute-phase protein Blood 101 2003 2461 2463
15. E. Nemeth, M.S. Tuttle, J. Powelson, M.B. Vaughn, A. Donovan, and D.M. Ward Hepcidin regulates iron efflux by binding to ferroportin and inducing its internalization Sci. 306 2004 2090 2093
16. P. Brissot, M.B. Troadec, and O. Loŕal Intestinal absorption of iron in HFE1-haemochromatosis: local or systemic process? J. Hepatol. 40 2004 702 709
17. C.N. Roy, and C.A. Enns Iron homeostasis: new tales from the crypts Blood 96 2000 4020 4027
18. D. Trinder, J.K. Olynyk, W.S. Sly, and E.H. Morgan Iron uptake from plasma transferrin in the duodenum is impaired in the HFE knock-out mouse Proc. Natl. Acad. Sci. 99 2002 5622 5626
19. P. Brissot, D. Guyader, and O. Loŕal Clinical aspects of hemochromatosis Transfus. Sci. 23 2000 193 200
20. R. Moirand, D. Guyader, M.H. Mendler, F. Laiń, A. Guillygomarc'h, and R. Moirand HFE based reevaluation of heterozygous hemochromatosis Am. J. Med. Genet 111 2002 356 361
21. P. Brissot Conduite ̀ tenir devant une hyperferritińmie isoĺe Gastroenterol. Pratique 138 2002 1 3
22. P. Aguilar Martinez, J.F. Schved, and P. Brissot The evaluation of hyperferritinemia: An updated strategy based on advances in detecting genetic abnormalities Am. J. Gastroenterol. 2005 (sous presse)
23. M.H. Mendler, B. Turlin, R. Moirand, A.M. Jouanolle, T. Sapey, and D. Guyader Insulin resistance-associated hepatic iron overload Gastroenterol. 117 1999 1155 1163
24. Y. Gandon, D. Oliví, D. Guyader, C. Aub́, F. Oberti, and V. Sebille Non-invasive assessment of hepatic iron stores by MRI Lancet 363 2004 357 362
25. P. Brissot, A.M. Jouanolle, C. Le Lan, O. Loŕal, Y. Deugnier, and V. David Surcharges ǵńtiques en fer non líes ̀ HFE Gastroenterol. Clin. Biol. 2005 (sous presse)
26. G. Papanikolaou, M.E. Samuels, E.H. Ludwig, M.L.E. MacDonald, P.L. Franchini, and M.P. Dub́ Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis Nat. Genet. 36 2004 77 82
27. A. Roetto, G. Papanikolaou, M. Politou, F. Alberti, D. Girelli, and J. Christakis Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis Nat. Genet. 33 2003 21 22
28. C. Camaschella, A. Roetto, A. Cali, M. De Gobbi, G. Garozzo, and M. Carella The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22 Nat. Genet. 25 2000 14 15
29. T. Matthes, P. Aguilar Martinez, L. Bosman-Pizzi, R. Darbellay, L. Rubbia-Brandt, and E. Giostra Severe hemochromatosis in a Portuguese family associated with a new mutation in the 5'UTR of the hepcidin gene Blood 104 2004 2181 2183
30. G. Le Gac, F. Mons, S. Jacolot, V. Scotet, C. F́rec, and T. Fŕbourg Early onset hereditary hemochromatosis resulting from a novel TFR2 gene nonsense mutation (R105X) in two siblings of north french descent Br. J. Haematol. 125 2004 674 678
31. E. Nemeth, A. Roetto, G. Garozzo, T. Ganz, and C. Camaschella Hepcidin is decreased in TFR2 hemochromatosis Blood 105 2005 1803 1806
32. G. Papanikolaou, M. Tzilianos, J.I. Christakis, D. Bogdanos, K. Tsiminka, and J. Macfarlane Hepcidin in iron overload disorders Blood January2005 25 (ahead of print)
33. O.T. Njajou, N. Vaessen, M. Joosse, B. Berghuis, J.W. van Dongen, and M.H. Breuning Mutation in SLC11A3 is associated with autosomal dominant hemochromatosis Nat. Genet. 28 2001 213 214
34. G. Montosi, A. Donovan, A. Totaro, C. Garuti, E. Pignatti, and S. Cassanelli Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene J. Clin. Invest. 108 2001 619 623
35. A.M. Jouanolle, V. Douabin-Gicquel, C. Halimi, O. Loŕal, P. Fergelot, and T. Delacour Novel mutation in ferroportin 1 gene is associated with autosomal dominant iron overload J. Hepatol. 39 2003 286 289
36. V.R. Gordeuk, A. Caleffi, E. Corradini, F. Ferrara, R.A. Jones, and O. Castro Iron overload in Africans and African-Americans and a common mutation in the SCL40A1 (ferroportin 1) gene Blood Cells Mol. Dis. 31 2003 299 304
37. A. Pietrangelo The ferroportin disease Blood Cells Mol. Dis. 32 2004 131 138
38. Z.L. Harris, Y. Takahashi, H. Miyajima, M. Serizawa, R.T. MacGillivray, and J.D. Gitlin Aceruloplasminemia: molecular characterization of this disorder od iron metabolism Proc. Natl. Acad. Sci. USA 92 1995 2539 2543
39. O. Loŕal, B. Turlin, C. Pigeon, A. Moisan, M. Ropert, and P. Morice Aceruloplasminemia: new clinical, pathophysiological and therapeutic insights J. Hepatol. 36 2002 851 856
40. R. Mariani, C. Arosio, S. Pelucchi, M. Grisoli, A. Piga, and P. Trombini Iron chelation therapy in aceruloplasminemia: study of a patient with a novel missense mutation Gut 53 2004 756 758
41. S. Jacolot, G. Le Gac, V. Scotet, I. Quere, C. Mura, and C. Ferec HAMP as a modifier gene that increase phenotypic expression of the HFE C282Y homozygous genotype Blood 103 2004 2835 2840
42. G. Le Gac, V. Scotet, C. Ka, I. Gourlaouen, L. Bryckaert, and S. Jacolot The recently identified type 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotype Hum. Mol. Genet. 13 2004 1913 1918