Hereditary hemochromatosis: HFE mutation analysis in Greeks reveals genetic heterogeneity

Blood Cells, Molecules, and Diseases

Volumn 26, Issue 2, 2000, Pages 163-168

  Papanikolaou, George ^a   Politou, Marianna ^a   Terpos, Evangelos ^a   Fourlemadis, Stefanos ^b   Sakellaropoulos, Nikos ^a   Loukopoulos, Dimitris ^a  

^a UNIVERSITY OF ATHENS   (Greece)

^b 251 Air Force Hospital   (Greece)

Author keywords

Hemochromatosis; HFE; Iron; Juvenile hemochromatosis

Indexed keywords

ARTICLE; CONTROLLED STUDY; FEMALE; GENETIC ANALYSIS; GENETIC POLYMORPHISM; GEOGRAPHIC DISTRIBUTION; GREECE; HEMOCHROMATOSIS; HUMAN; MAJOR CLINICAL STUDY; MALE; PENETRANCE; PRIORITY JOURNAL;

STAPHYLOCOCCUS PHAGE 187;

EID: 0033859043     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1006/bcmd.2000.0292     Document Type: Article

References (18)

1. Edwards C. Q., Griffen L. M., Goldgar D. Prevalence of hemochromatosis among 11,065 presumably healthy blood donors. New Engl. J. Med. 318:1988;1355-1362.
2. Cartwright G. E., Edwards C. Q., Kravitz K. Hereditary hemochromatosis: Phenotypic expression of the disease. New Engl. J. Med. 301:1979;175-179.
3. Simon M., Bourel R., Fauchet R., Genetet B. Association of HLA-A3 and HLA-B14 antigens with idiopathic hemochromatosis. Gut. 17:1976;322-334.
4. Feder J. N., Gnirke A., Thomas W. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat. Genet. 13:1996;399-408.
5. Beutler E., Gelbart T., West C. Mutation analysis in hereditary hemochromatosis. Blood Cells Mol. Dis. 22:1996;187-194.
6. Jazwinska E. C., Cullen L. M., Busfield F. Hemochromatosis and HLA-H. Nat. Genet. 13:1996;399-408.
7. Beutler E. The significance of the 187G(H63D) mutation in hemochromatosis. Am. J. Hum. Genet. 61:1997;762-764.
8. Mura C., Raguenes O., Ferec C. HFE mutation analysis in 711 hemochromatosis probands: Evidence for S65 C implication in mild form of hemochromatosis. Blood. 93:1999;2502-2505.
9. Beutler E., Felitti V. J., Ho N. J., Gelbart T. Commentary on: HFE S65C variant is not associated with increased transferrin saturation in voluntary blood donors by Naveen Arya, Subrata Chakrabrati, Robert A. Hegele, Paul C. Adams. Blood Cells Mol. Dis. 25:1999;358-360.
10. Cazzola M., Ascari E., Barosi G. Juvenile idiopathic haemochromatosis: A life-threatening disorder presenting a hypogonadotropic hypogonadism. Hum. Genet. 65:1983;149-154.
11. Merryweather-Clarke A. T., Pointon J. J., Shearman J. D. Global prevalence of putative haemochromatosis mutations. J. Med. Genet. 34:1997;275-278.
12. Simon M., Alexandre J. L., Fauchet R. The genetics of hemochromatosis. Prog. Med. Genet. 4:1980;135-168.
13. Fairbanks V. F. Barton J. C., Edwards C. Q. Hemochromatosis: Population genetics. 2000;42-50 Cambridge Univ. Press.
14. Olynyk J. K., Cullen D. J., Aquilia S. A population-based study of the clinical expression of the hemochromatosis gene. New Engl. J. Med. 341:1999;718-724.
15. Jouanolle A. M., Gandon G., Jezequel P. Hemochromatosis and HLA-H. Nat. Genet. 14:1996;251-252.
16. Carella M. D., Ambrosio L., Totaro A. Mutation analysis of the HLA-H gene in Italian hemochromatosis patients. Am. J. Hum. Genet. 60:1997;828-832.
17. Piperno A., Sampietro M., Pietrangelo A. Heterogeneity of hemochromatosis in Italy. Gastroenterology. 114:1998;996-1002.
18. Camaschella C., Roetto A., Ciciliano M. Juvenile and adult hemochromatosis are distinct genetic disorders. Eur. J. Hum. Genet. 5:1997;371-375.