C282Y and H63D mutations of the haemochromatosis gene in patients with iron overload

Revista Espanola de Enfermedades Digestivas

Volumn 93, Issue 5, 2001, Pages 298-302

  Jorquera, Francisco ^a   Dominguez A ^a   Diaz Golpe V ^a   Espinel, J ^a   Munoz F ^a   Herrera, A ^a   Fernandez Gundin M J ^a   Vivas, S ^a   Olcoz, J L ^a  

^a HOSPITAL DE LEÓN   (Spain)

Author keywords

C282y mutation; H63D mutation; Haemochromatosis; HEF gene; Iron overload

Indexed keywords

ARTICLE; FEMALE; GENETICS; HEMOCHROMATOSIS; HUMAN; IRON OVERLOAD; MALE; MIDDLE AGED; POINT MUTATION;

FEMALE; HEMOCHROMATOSIS; HUMANS; IRON OVERLOAD; MALE; MIDDLE AGED; POINT MUTATION;

EID: 0035346430     PISSN: 11300108     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (28)

1. Feder JN, Gnirke A, Thomas W, et al. A novel MHC class-I like gene is mutated in patientes with hereditary haemochromatosis. Nat Genet 1996; 13: 399-408.
2. Jouanolle AM, Gardon G, Jezequel P, et al. Haemochromatosis and HLA-H. Nat Genet 1996; 14: 251-252.
3. Beutler E, Gelbart T, West C, et al. Mutational analysis in hereditary haemochromatosis. Blood Cells Mol Dis 1996; 22: 187-94.
4. Legget BA, Halliday JW, Brown NN, et al. Prevalence of haemochromatosis among asymptomatic Australians. Br J Haematol 1990; 74: 525-30.
5. Smith BN, Kantrowitz W, Grace ND, et al. Prevalence of hereditary haemochromatosis in a Massachusetts Corporation: is Celtic origin a risk factor? Hepatology 1997; 25: 1439-46.
6. Williams R, Smith PM, Spicer EJ, et al. Venesection therapy in idiopathic haemocromatosis. An analysis of 40 treated an 18 untreated patients. Q J Med 1969; 38: 1-16.
7. Jeffrey GP, Chakrabarti S, Hegele RA, et al. Polymorphism in intron 4 of HFE may cause overstimation of C282Y homozygote prevalence in haemochromatosis. Nat Genet 1999; 22: 325-6.
8. Datz Ch, Lalloz MRA, Vogel W, et al. Predominance of the HLA-H Cys282Tyr mutation in Austrian patients with genetic haemochromatosis. J Hepatol 1997; 27: 773-9.
9. Scheuer PJ, Williams R, Muir AR. Hepatic pathology in relatives of patients with haemochromatosis. J Pathol Bacteriol 1962; 84: 53-64.
10. Simon M, Bourel M, Fauchet R, Genetet B. Association of HLA A3 and HLA B14 antigens with idiopathic hemochromatosis. GUT 1976; 17: 332-4.
11. Brissot P, Moirand R, Jouanolle AM, et al. A genotypic study of 217 unrelated prohans diagnosed as "genetic hemochromatosis" on "classical" phenotypic criteria. J Hepatol 1999; 30: 588-93.
12. Olynyk JK, Cullen DJ, Aquilia S, et al. A population-based study of clinical expression of the hemochromatosis gene. N Eng J Med 1999; 341: 718-24.
13. Pietrangelo A, Montosi G, Totaro A, et al. Hereditary hemochromatosis in adults withtout patogenic mutations in the hemochromatosis gene. N Eng J Med 1999; 341: 725-32.
14. 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: 828-32.
15. Jazwinska EC, Cullen LM, Busfield F, et al. Haemochromatosis and HLA-H. Nat Genet 1996; 14: 249-51.
16. Jouanolle AM, Gandon G, Jezequel P, et al. Haemochromatosis and HLA-H. Nat Genet 1996; 14: 251-2.
17. Worwood M, Shearman JD, Wallace DF, et al. A simple genetic test identifies 90% of UK patients with haemochromatosis. GUT 1997; 41: 841-4.
18. Powell LW. Genetic Diagnosis of Hemochromatosis: implications for prophylaxis and treatment. En: Arroyo V, Bosch J, Bruguera M, Rodes J, Sánchez Tapias JM, eds. Treatment in liver diseases. Barcelona: Masson S.A., 1999; 391-404.
19. Sánchez M, Bruguera M, Bosch J, et al. Prevalence of the Cys282Tyr and His63Asp HFE gene mutations in Spanish patients with hereditary hemochromatosis and in controls. J Hepatol 1998; 29: 725-8.
20. Fábrega E, Castro B, Sánchez-Castro L, et al. Prevalencia de la mutación Cys282Tyr del gen de la hemocromatosis en Cantabria y en los pacientes diagnosticados de hemocromatosis hereditaria. Med Clin 1999; 112: 451-3.
21. Moreno L, Vallcorba P, Boixeda D, et al. Utilidad de la detección de las mutaciones Cys282Tyr e His63Asp en el diagnóstico de la hemocromatosis hereditaria. Rev Clin Esp 1999; 199: 632-6.
22. Merryweather-Clarke AT, Pointon JJ, Shearman JD, et al. Global prevalence of putative haemochromatosis mutations. J Med Genet 1997; 34: 275-8.
23. Marshall DS, Linfert DR, Tsongalis GJ. Prevalence of the C282Y and H63D polymorphisms in a multi-ethnic control population. Int J Mol Med 1999; 4: 389-93.
24. Smith BC, Grove J, Guzail MA, et al. Heterozygosity for hereditary hemochromatosis is associated with more fibrosis in chronic hepatitis C. Hepatology 1998; 27: 1695-9.
25. Hickman P, Hourigan L, Powell LW, et al. Automated measurement of unsaturaded iron binding capacity allows a cost effective, ongoing strategy for screening for haemochromatosis. Hepatology 1998; 28: 422.
26. Adams PC, Kertesz AE, McLaren CE, et al. Population screening for hemochromatosis: A comparison of unbound iron-binding capacity, tranferrin saturation, and C282Y genotyping in 5.211 voluntary blood donors. Hepatology 2000; 31: 1160-4.
27. Crawford DHG, Hickman P. Screening for hemochromatosis. Hepatology 2000; 31: 1192-3.
28. Barton JC, Acton RT. Population screening for hemochromatosis: has the time finally come? Current Gastroenterology reports 2000; 2: 18-26.