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SciELO - Scientific Electronic Library Online

Referencias del artículo

TORREMOCHA, R.A. et al. Prevalencia de mutaciones C282Y, H63D y S65C en un colectivo laboral del País Vasco. Rev Diagn Biol [online]. 2002, vol.51, n.4, pp.140-144. ISSN 0034-7973.


    1. Bacon BR, Tavill AS. Hemochromatosis and the iron overload syndromes. En: Zakim D. Boyer TD, eds. Hepatology: a textbook of liver disease. Filadelfia: WB Saunders, 1996;1.439-1.472.  [ Links ]


    2. Bothwell TH, Charlton RW, Motulsky AG. Haemochromatosis. En: Scriver CR, Beaudet AL, Sly WS Valle D, eds. The metabolic and biochemical basis of inherited disease. McGraw-Hill; 1996; 2237-2269.  [ Links ]


    3. Oliva R, Bruguera M, Sánchez M, Rodés J. Hemocromatosis hereditaria: utilidad clínica del diagnóstico genético molecular. Medicina Integral 1999;33:416-425.  [ Links ]


    4. Pardo A, Salido E, Quintero E. Hemocromatosis hereditaria: implicaciones clínicas del diagnóstico genético. Gastroenterol Hepatol 1999;22:415-428.  [ Links ]


    5. Edwards CQ, Griffin LM, Golgard D, Drummond C, Skolnick MH, Kushner JP. Prevalence of hemocromatosis among 11.065 presumably healthy blood donors. N Engl J Med 1988;318:1355-1362.  [ Links ]


    7. Sheldon JH. Haemocromatosis. London: Oxford University Press; 1935. [ Links ]


    8. Simon M, Bourel M, Fauchet R, Genetet B. Association of HLA-B14 antigens with idiopatic hemochromatosis. Gut 1976;17:332-334.  [ Links ]


    9. Feder JN, Gnirke A, Thomas W, et al. A novel MHC class I-like gene is mutated in patients with hereditary haemocromatosis. Nat Genet 1996;13:399-408.  [ Links ]


    10. Mura C, Raguenes O, Ferec C. HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis. Blood 1999;93:2502-2505.  [ Links ]


    11. Bennett MJ, Lebron JA, Bjorkman PJ. Crystal structure of the hereditary haemochromatosis protein HFE complexed with transferrin receptor. Nature 2000; 403:46-53.  [ Links ]


    12. Feder JN, Penny DM, Irrinki A, et al. The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding. Proc Natl Acad Sci USA 1998;95:1472-1477.  [ Links ]


    13. Feder JN, Tsuchihashi Z, Irrinki A, et al. The hemochromatosis founder mutation in HLA-H disrupts beta2-microglobulin interaction and cell surface expression. J Biol Chem 1997;272:14025-14028.  [ Links ]


    14. Perez-Aguilar F. Hereditary hemochromatosis: pathophysiological, clinical and therapeutical considerations. Med Clin (Barc) 2002;18:103-110  [ Links ]


    15. Bulaj ZJ, Griffen LM, Jorde LB, Edwards CQ, Kushner JP. Clinical and biochemical abnormalities in people heterozygous for hemochromatosis. N Engl J Med 1996;335:1799-1805.  [ Links ]


    16. Beutler E, Gelbart T, West C, et al. Mutation analysis in hereditary hemochromatosis. Blood Cells Mol Dis 1996;22:187-194.  [ Links ]


    17. Simon M, Alexandre JL, Fauchet R, Genetet B, Bourel M. The genetics of hemochromatosis. Prog Med Genet 1980;4:135-68.  [ Links ]


    18. Smith BN, Kantrowitz W, Grace ND, et al. Prevalence of hereditary hemochromatosis in a Massachusetts corporation: is Celtic origin a risk factor? Hepatology 1997;25:1439-1446.  [ Links ]


    19. Lucotte G. Celtic origin of the C282Y mutation of hemochromatosis. Blood Cells Mol Dis 1998;24:433-438.  [ Links ]


    20. Beckman LE, Saha N, Spitsyn V, Van Landeghem G, Beckman L. Ethnic differences in the HFE codon 282 (cys/tyr) polymorphism. Hum Hered 1997;47:263-267.  [ Links ]


    21. Merryweather-Clarke AT, Pointon JJ, Shearman JD, Robson KJ. Global prevalence of putative haemochromatosis mutations. J Med Genet 1997;34:275-278.  [ Links ]


    22. Carella M, D'Ambrosio L, Totaro A, et al. Mutation analysis of the HLA-H gene in Italian hemochromatosis patients. Am J Hum Genet 1997;60:828-832.  [ Links ]


    23. Fábrega E, Castro B, Sánchez-Castro L, Benito A, Fernández-Luna JL, Pons-Romero F. Prevalencia de la mutación Cys282Tyr del gen de la hemocromatosis en Cantabria y en los pacientes diagnosticados de hemocromatosis hereditaria. Med Clin 1999;112:451:453.  [ Links ]


    24. Alvarez S, Mesa MS, Bandrés F, Arroyo E. C282Y and H63D mutation frequencies in a population from central Spain. Dis Markers 2001;17:111-114.  [ Links ]


    25. de Juan D, Reta A, Castiella A, Pozueta J, Prada A, Cuadrado E. HFE gene mutations analysis in Basque hereditary haemochromatosis patients and controls. Eur J Hum Genet 2001;9:961-964.  [ Links ]


    26. Pietrangelo A, Camaschella C. Molecular genetics and control of iron metabolism in hemochromatosis. Haematologica 1998;83:456-461.  [ Links ]


    27. Sanchez M, Bruguera M, Bosch J, Rodes J, Ballesta F, Oliva R. Prevalence of the Cys282Tyr and His63Asp HFE gene mutations in Spanish patients with hereditary hemochromatosis and in controls. J Hepatol 1998;29:725-728.  [ Links ]


    28. Arya N, Chakrabrati S, Hegele RA, Adams PC. HFE S65C variant is not associated with increased transferrin saturation in voluntary blood donors. Blood Cells Mol Dis 1999;25:354-357.  [ Links ]


    29. Remacha AF, Barceló MJ, Sardá MP, Blesa I, Altés A, Baiget M. The S65C mutation in Spain. Implications for iron overload screening. Haematologica 2000;85:1324-1330.  [ Links ]


    30. Barton JC, Sawada-Hirai R, Rothenberg BE, Acton RT. Two novel missense mutations of the HFE gene (I105T and G93R) and identification of the S65C mutation in Alabama hemochromatosis probands. Blood Cells Mol Dis 1999;25:147-155.  [ Links ]


    31. Adams P, Brissot P, Powell LW. EASL International Consensus Conference on Haemochromatosis. J Hepatol 2000;33:485-504.  [ Links ]


    32. Davis JG. Population screening for hemochromatosis: the evolving role of genetic analysis. Ann Intern Med 1998;129:905-908.  [ Links ]


    33. McDonnell SM, Hover A, Gloe D, Ou CY, Cogswell ME, Grummer-Strawn L. Population-based screening for hemochromatosis using phenotypic and DNA testing among employees of health maintenance organizations in Springfield, Missouri. Am J Med 1999;107:30-37.  [ Links ]


    34. Olynyk JK, Cullen DJ, Aquilia S, Rossi E, Summerville L, Powell LW. A population-based study of the clinical expression of the hemochromatosis gene. N Engl J Med 1999;341:718-724.  [ Links ]


    35. Adams PC, Valberg LS. Screening blood donors for hereditary hemochromatosis: decision analysis model comparing genotyping to phenotyping. Am J Gastroenterol 1999;94:1593-1600.  [ Links ]


    36. Oliva R, Sánchez M, Bruguera M, Rodés J. Utilidad clínica de la detección de mutaciones del gen HFE en la hemocromatosis. Gastroenterol Hepatol 2000; 3:433-435.  [ Links ]


    37. Roest M, van der Schouw YT, de Valk B, et al. Heterozygosity for a hereditary hemochromatosis gene is associated with cardiovascular death in women. Circulation 1999;100:1268-1273.  [ Links ]


    38. Tuomainen TP, Kontula K, Nyyssonen K, Lakka TA, Helio T, Salonen JT. Increased risk of acute myocardial infarction in carriers of the hemochromatosis gene Cys282Tyr mutation: a prospective cohort study in men in eastern Finland. Circulation 1999;100:1274-1279.  [ Links ]


    39. Ropero Gradilla P, Villegas Martínez A, Fernández Arquero M, et al. Mutaciones C282Y y H63D del gen HFE en pacientes con hepatopatía alcohólica avanzada. Rev Esp Enferm Dig 2001;93:156-159. [ Links ]