Chronic inflammation does not appear to modify the homozygous hereditary hemochromatosis phenotype

Blood Cells, Molecules, and Diseases

Volumn 35, Issue 3, 2005, Pages 326-327

  Beutler, Ernest ^a   Waalen, Jill ^a   Gelbart, Terri ^a  

^a SCRIPPS RESEARCH INSTITUTE   (United States)

Author keywords

CRP; Ferritin; Hepcidin; IL 6; Iron

Indexed keywords

C REACTIVE PROTEIN; CYTOKINE; HEPCIDIN; HFE PROTEIN; INTERLEUKIN 6; IRON;

ARTICLE; BLOOD ANALYSIS; BLOOD SAMPLING; CONTROLLED STUDY; CYTOKINE RELEASE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HEMOCHROMATOSIS; HOMOZYGOSITY; HUMAN; INFLAMMATORY INFILTRATE; IRON BLOOD LEVEL; IRON STORAGE; PHENOTYPIC VARIATION; PHLEBOTOMY; PRIORITY JOURNAL; UPREGULATION;

C-REACTIVE PROTEIN; CHRONIC DISEASE; FEMALE; HEMOCHROMATOSIS; HISTOCOMPATIBILITY ANTIGENS CLASS I; HOMOZYGOTE; HUMANS; INFLAMMATION; INTERLEUKIN-6; IRON; MALE; MEMBRANE PROTEINS; MUTATION; PHENOTYPE;

EID: 27744561637     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bcmd.2005.08.003     Document Type: Article

References (16)

1. P.L. Lee, T. Gelbart, C. West, C. Halloran, and E. Beutler Seeking candidate mutations that affect iron homeostasis Blood Cells, Mol. Dis. 29 2002 471 487
2. S. Jacolot, G. Le Gac, V. Scotet, I. Quere, C. Mura, and C. Ferec HAMP as a modifier gene that increases the phenotypic expression of the HFE pC282Y homozygous genotype Blood 103 2004 2835 2840
3. A.T. Merryweather-Clarke, E. Cadet, A. Bomford, D. Capron, V. Viprakasit, A. Miller, P.J. McHugh, R.W. Chapman, J.J. Pointon, V.L.C. Wimhurst, K.J. Livesey, V. Tanphaichitr, J. Rochette, and K.J.H. Robson Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis Hum. Mol. Genet. 12 2003 2241 2247
4. G. Nicolas, N.C. Andrews, A. Kahn, and S. Vaulont Hepcidin, a candidate modifier of the hemochromatosis phenotype in mice Blood 103 2004 2841 2843
5. J.B. Whitfield, L.M. Cullen, E.C. Jazwinska, L.W. Powell, A.C. Heath, G. Zhu, D.L. Duffy, and N.G. Martin Effects of HFE C282Y and H63D polymorphisms and polygenic background on iron stores in a large community sample of twins Am. J. Hum. Genet. 66 2000 1246 1258
6. J.H. Sheldon Haemochromatosis 1935 Oxford Univ. Press London
7. V. Scotet, M.C. Merour, A.Y. Mercier, B. Chanu, T. Le Faou, O. Raguenes, G. Le Gac, C. Mura, J.B. Nousbaum, and C. Ferec Hereditary hemochromatosis: effect of excessive alcohol consumption on disease expression in patients homozygous for the C282Y mutation Am. J. Epidemiol. 158 2003 129 134
8. T. Ganz Hepcidin, a key regulator of iron metabolism and mediator of anemia of inflammation Blood 102 2003 783 788
9. P.L. Lee, H. Peng, T. Gelbart, and E. Beutler The IL-6 and lipopolysaccharide-induced transcription of hepcidin in HFE, transferrin receptor-2, and β2 microglobulin deficient hepatocytes Proc. Natl. Acad. Sci. U. S. A. 101 2004 9263 9265
10. C.N. Roy, A.O. Custodio, J. De Graaf, S. Schneider, I. Akpan, L.K. Montross, M. Sanchez, A. Gaudino, M.W. Hentze, N.C. Andrews, and M.U. Muckenthaler An Hfe-dependent pathway mediates hyposideremia in response to lipopolysaccharide-induced inflammation in mice Nat. Genet. 36 2004 481 485
11. D.M. Frazer, S.J. Wilkins, K.N. Millard, A.T. McKie, C.D. Vulpe, and G.J. Anderson Increased hepcidin expression and hypoferraemia associated with an acute phase response are not affected by inactivation of HFE Br. J. Haematol. 126 2004 434 436
12. E. Beutler, V.J. Felitti, J.A. Koziol, N.J. Ho, and T. Gelbart Penetrance of the 845G->A (C282Y) HFE hereditary haemochromatosis mutation in the USA Lancet 359 2002 211 218
13. J. Waalen, V. Felitti, T. Gelbart, N.J. Ho, and E. Beutler Prevalence of hemochromatosis-related symptoms in homozygotes for the C282Y mutation of the HFE gene Mayo Clin. Proc. 77 2002 522 530
14. J. Waalen, V.J. Felitti, T. Gelbart, N.J. Ho, and E. Beutler Penetrance of hemochromatosis Blood Cells, Mol. Dis. 29 2002 418 432
15. E. Beutler, V. Felitti, N. Ho, and T. Gelbart Relationship of body iron stores to levels of serum ferritin, serum iron, unsaturated iron binding capacity and transferrin saturation in patients with iron storage disease Acta Haematol. (Basel) 107 2002 145 149
16. O. Rogowski, I. Shapira, A. Zimran, D. Zeltser, D. Elstein, D. Attias, A. Bashkin, and S. Berliner Automated system to detect low-grade underlying inflammatory profile: Gaucher disease as a model Blood Cells, Mol. Dis. 34 2005 26 29