Hemochromatosis in Ireland and HFE

Blood Cells, Molecules, and Diseases

Volumn 24, Issue 4, 1998, Pages 428-432

  Ryan, Eleanor ^a   O'Keane, Conor ^a   Crowe, John ^a  

^a MATER MISERICORDIAE UNIVERSITY HOSPITAL   (Ireland)

Author keywords

C282Y; H63D; Hemochromatosis; HFE; Ireland

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE SEVERITY; DNA DETERMINATION; FEMALE; GENE FREQUENCY; GENETIC EPIDEMIOLOGY; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; HEMOCHROMATOSIS; HUMAN; IRELAND; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; PATHOGENESIS; PENETRANCE; PRIORITY JOURNAL; ZYGOSITY;

STAPHYLOCOCCUS PHAGE 187;

EID: 0032451161     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1006/bcmd.1998.0211     Document Type: Article

References (23)

1. 1. Edwards CQ, Kushner, JP. Screening for hemochromatosis. N Engl J Med 328:1616-20, 1993.
2. 2. Feder JN, Gnirke A, Thomas W, Tsuchihashi Z, et al. A novel MHC-class 1-like gene is mutated in patients with hereditary hemochromatosis. Nature Genetics; 13:399-408, 1996.
3. 3. Beutler E, Gelbart T, West C, et al. Mutation analysis in hereditary hemochromatosis. Blood Cells Mol Dis 22:187-94, 1996.
4. 4. Jazwinska EC, Cullen LM, Busfield F, et al. Hemochromatosis and HLA-H. Nature Genetics 14:249-51, 1996.
5. 5. Jouannolle AM Gandon G, Jezequel M, et al. Hemochromatosis and HLA-H. Nature Genetics 14:251-52, 1996.
6. 6. The UK Hemochromatosis Consortium. A simple genetic test identifies 90% of UK patients with hemochromatosis. Gut 41:841-44, 1997.
7. 7. Carella M, D'Ambrosio L, Totaro A, et al. Mutation analysis of the HLA-H gene in Italian hemochromatosis patients. Am J Hum Genet 60:828-32, 1997.
8. 8. Borot N, Roth MP, Malfroy L, et al. Mutations in the MHC class I like candidate gene for hemochromatosis in French patients. Immunogenetics 45:320-24, 1997.
9. 9. Goldwurm S, Powell LW. Hemochromatosis after the discovery of HFE ("HLA-H") Gut 41:855-56, 1997.
10. 10. Beutler E. The significance of the 187G (H63D) mutation in hemochromatosis. Am J Hum Genet 61:762-764, 1997.
11. 11. 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 95:1472-1477, 1998.
12. 12. Sham RL, Chin-Yih Ou, Cappuccio J, Braggins C, Dunnigan K, Phatak PD. Correlation between genotype and phenotype in hereditary hemochromatosis: analysis of 61 cases. Blood Cells Mol Dis 23:314-20, 1997.
13. 13. Fairbanks VF, Brandhagen DJ, Thibodeau SN, Snow K, Wollan PC. H63D is an haemochromatosis associated allele. Gut 43:441-444, 1998.
14. 14. Crawford D, Jazwinska EC, Cullen LM, Powell LW. Expression of HLA-linked hemochromatosis in subjects homozygous or heterozygous for the C282Y mutation. Gastroenterology 114:1003-1008, 1998.
15. 15. Simon M, Alexandre JL, Fauchet R, Genetet B, Bourel M. The genetics of hemochromatosis. Prog Med Genet 4:135-68, 1980.
16. 16. Smith BN, Kantrowitz W, Grace ND, Greenberg MS, Patton TJ, Ookubo R. Prevalence of hereditary hemochromatosis in a Massachusetts Corporation : Is Celtic origin a risk factor? Hepatology 25:1439-46, 1997.
17. 17. Walsh PS, Metzger DA, Higuchi R. Chelex 100 as a medium for simple extraction of DNA for PCR based typing from forensic material. Biotechniques 10:506-13, 1991.
18. 18. Merryweather-Clarke AT, Pointon JJ, Shearman JD, Robson KJH. Global prevalence of putative hemochromatosis mutations. J Med Genet 34:275-78, 1997.
19. 19. Beutler E. Genetic irony beyond hemochromatosis: clinical effects of HFE mutations. Lancet 349:296-97, 1997.
20. 20. Edwards CQ, Griffen LM, Goldgar D, Drummond C, Skolnick MH, Kushner JP. Prevalence of hemochromatosis among 11,065 presumably healthy blood donors. N Engl J Med 318:1355-62, 1988.
21. 21. Ryan E, Kelly P, MacMathuna P, Crowe J. Relationship between HLA genotype and phenotypic expression in Irish families with genetic hemochromatosis. Gut 39(suppl 3):A22, 1996.
22. 22. Bacon BR. Diagnosis and management of hemochromatosis. Gastroenterology 113:995-99, 1997.
23. 23. Camaschella C, Piperno A. Hereditary hemo-chromatosis: recent advances in molecular genetics and clinical management. Haematologica 82:77-84, 1997.