Clinical characteristics of hereditary hemochromatosis patients who lack the C282Y mutation

Hepatology

Volumn 28, Issue 2, 1998, Pages 526-529

  Shaheen, Nicholas J ^a   Bacon, Bruce R ^b   Grimm, Ian S ^a  

^a UNIVERSITY OF NORTH CAROLINA   (United States)

^b School of Medicine   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; FEMALE; GENETIC LINKAGE; HEMOCHROMATOSIS; HERITABILITY; HUMAN; IRON OVERLOAD; LIVER LEVEL; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL;

COHORT STUDIES; FEMALE; GENOTYPE; HEMOCHROMATOSIS; HOMOZYGOTE; HUMANS; MALE; MIDDLE AGED; MUTATION; PHENOTYPE;

EID: 0031879555     PISSN: 02709139     EISSN: None     Source Type: Journal    
DOI: 10.1002/hep.510280233     Document Type: Article

References (21)

1. Edwards CQ, Griffen LM, Goldar D, Drummond C, Skolnick MH, Kushner JP. Prevalence of hemochromatosis among 11,065 presumably healthy blood donors. N Engl J Med 1988;318:1355-1362.
2. Cartwright GE, Edwards CQ, Kravitz K, Skolnick M, Amos DB, Johnson A, Buskjaer L. Hereditary hemochromatosis. Phenotypic expression of the disease. N Engl J Med 1979;301:175-179.
3. Leggett BA, Halliday JW, Brown NN, Bryant S, Powell LW. Prevalence of haemochromatosis amongst asymptomatic Australians. Br J Haematol 1990;74:525-530.
4. Dadone MM, Kushner JP, Edwards CQ, Bishop DT, Skolnick MH. Hereditary hemochromatosis. Analysis of laboratory expression of the disease by genotype in 18 pedigrees. Am J Clin Pathol 1982;78:196-207.
5. Niederau C, Fischer R, Sonnenberg A, Stremmel W, Trampisch HJ, Strohmeyer G. Survival and causes of death in cirrhotic and non-cirrhotic patients with primary hemochromatosis. N Engl J Med 1985;313:1256-1262.
6. Powell LW, Summers KM, Board PG, Axelsen E, Webb S, Halliday JW. Expression of hemochromatosis in homozygous subjects. Gastroenterology 1990;98:1625-1632.
7. Feder JN, Gnirke A, Thomas W, Tsuchihashi Z, Ruddy DA, Basava A, Dormishian F, et al. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet 1996;13:399-408.
8. Jazwinska EC, Cullen LM, Busfield F, Pyper WR, Webb SI, Powell LW, Morris CP, et al. Haemochromatosis and HLA-H. Nat Genet 1996;14:249-251.
9. Jouanolle AM, Gandon G, Jezequel P, Blayau M, Campion ML, Yaouanq J, Mosser J, et al. Haemochromatosis and HLA-H. Nat Genet 1996;14:251-252.
10. Beutler E, Gelbart T, West C, Lee P, Adams M, Blackstone R, Pockros P, et al. Mutation analysis in hereditary hemochromatosis. Blood Cell Mol Dis 1996;22:187-194.
11. Calandro L, Thorsen T, Barcellos L, Griggs J, Baer D, Sensabaugh GF. Mutation analysis in hereditary hemochromatosis [Commentary]. Blood Cell Mol Dis 1996;22:194A-194B.
12. Carella M, D'Ambrosio L, Totaro A, Grifa A, Valentino MA, Piperno A, Girelli D, et al. Mutation analysis of the HLA-H gene in Italian hemochromatosis patients. Am J Hum Genet 1997;60:828-832.
13. Bonkovsky HL, Banner BF, Lambrecht RW, Rubin RB. Iron in liver diseases other than hemochromatosis. Semin Liver Dis 1996;16:65-82.
14. Chapman RW, Morgan MY, Laulicht M, Hoffbrand AV, Sherlock S. Hepatic iron stores and markers of iron overload in alcoholics and patients with idiopathic hemochromatosis. Dig Dis Sci 1982;27:909-916.
15. Di Bisceglie AM, Axiotis CA, Hoofnagle JH, Bacon BR. Measurements of iron status in patients with chronic hepatitis. Gastroenterology 1992;102:2108-2113.
16. Riggio O, Montagnese F, Fiore P, Folino S, Giambartolomei S, Gandin C, Merli M, et al. Iron overload in patients with chronic viral hepatitis: how common is it? Am J Gastroenterol 1997;92:1298-1301.
17. Johnson BF Hemochromatosis resulting from prolonged oral iron therapy. N Engl J Med 1968;278:1100-1101.
18. Jalihal SS, Barlow AM. Haemochromatosis following prolonged oral iron ingestion. J Royal Soc Med 1984;77:690-692.
19. Hennigar GR, Greene WB, Walker EM, deSaussure C. Hemochromatosis caused by excessive vitamin iron intake. Am J Pathol 1979;96:611-624.
20. Simon M, Bourel M, Genetet B, Fauchet R, Edan G, Brissot P. Idiopathic hemochromatosis and iron overload in alcoholic liver disease: differentiation by HLA phenotype. Gastroenterology 1997;73:655-658.
21. Ludwig J, Hashimoto E, Porayko MK, Moyer TP, Baldus WP. Hemosiderosis in cirrhosis: a study of 447 native livers. Gastroenterology 1997;112:882-888.