HFE genotype in patients with hemochromatosis and other liver diseases

Annals of Internal Medicine

Volumn 130, Issue 12, 1999, Pages 953-962

  Bacon, Bruce R ^a   Olynyk, John K ^b   Brunt, Elizabeth M ^a   Britton, Robert S ^a   Wolff, Roger K ^c  

^a S LOUIS UNIV HLTH SCIENCES CENTER   (United States)

^b FREMANTLE HOSPITAL   (Australia)

^c Progenitor Inc   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BLOOD CELL COUNT; DNA DETERMINATION; FEMALE; FERRITIN BLOOD LEVEL; GENETIC ANALYSIS; GENOTYPE; HEMOCHROMATOSIS; HOMOZYGOSITY; HUMAN; LIVER DISEASE; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; PATHOGENESIS; PRIORITY JOURNAL;

EID: 0033564146     PISSN: 00034819     EISSN: None     Source Type: Journal    
DOI: 10.7326/0003-4819-130-12-199906150-00002     Document Type: Article

References (32)

1. Bacon BR, Powell LW, Adams PC, Kresina TF, Hoofnagle JH. Molecular medicine and hemochromatosis: at the crossroads. Gastroenterology. 1999; 116:193-207.
2. Niederau C, Fischer R, Sonnenberg A, Stremmel W, Trampisch HJ, Strohmeyer G. Survival and causes of death in cirrhotic and in noncirrhotic patients with primary hemochromatosis. N Engl J Med. 1985;313:1256-62.
3. Feder JN, Gnirke A, Thomas W, Tsuchihashi Z, Ruddy DA, Basava A, et al. A novel MHC class 1-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet. 1996;13:399-408.
4. Beutler E, Gelbart T, West C, Lee P, Adams M, Blackstone R, et al. Mutation analysis in hereditary hemochromatosis. Blood Cells Mol Dis. 1996; 22:187-94.
5. Jazwinska EC, Cullen LM, Busfield F, Pyper WR, Webb SI, Powell LW, et al. Haemochromatosis and HLA-H [Letter]. Nat Genet. 1996;14:249-51.
6. Jouanolle AM, Gandon G, Jezequel P, Blayau M, Campion ML, Yaouanq J, et al. Haemochromatosis and HLA-H [Letter]. Nat Genet. 1996; 14:251-2.
7. Carella M, D'Ambrosio L, Totaro A, Grifa A, Valentino MA, Piperno A, et al. Mutation analysis of the HLA-H gene in Italian hemochromatosis patients. Am J Hum Genet. 1997;60:828-32.
8. Burke W, Thomson E, Khoury MJ, McDonnell SM, Press N, Adams PC, et al. Hereditary hemochromatosis: gene discovery and its implications for population-based screening. JAMA. 1998;280:172-8.
9. 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;27:909-16.
10. Di Bisceglie AM, Axiotis CA, Hoofnagle JH, Bacon BR. Measurements of iron status in patients with chronic hepatitis. Gastroenterology. 1992;102: 2108-13.
11. Bacon BR, Farahvash MJ, Janney CG, Neuschwander-Tetri BA, Non-alcoholic steatohepatitis: an expanded clinical entity. Gastroenterology. 1994; 107:1103-9.
12. George DK, Goldwurm S, MacDonald GA, Cowley LL, Walker NI, Ward PJ, et al. Increased hepatic iron concentration in nonalcoholic steatohepatitis is associated with increased fibrosis. Gastroenterology. 1998;114:311-8.
13. Jawaid Q, Leclair P, Tortorelli K, Cobb J, Lambrecht R, Bonkovsky H. Non-alcoholic steatohepatitis and hereditary hemochromatosis [Abstract]. Gastroenterology. 1998;114:A1264.
14. Smith BC, Grove J, Guzail MA, Day CP, Daly AK, Burt AD, et al. Heterozygosity for hereditary hemochromatosis is associated with more fibrosis in chronic hepatitis C. Hepatology. 1998;27:1695-9.
15. Piperno A, Vergani A, Malosio I, Parma L, Fossati L, Ricci A, et al. Hepatic iron overload in patients with chronic viral hepatitis: role of HFE gene mutations. Hepatology. 1998;28:1105-9.
16. Kazemi-Shirazi L, Datz C, Maier-Dobersberger T, Kaserer K, Hackl F, Polli C, et al. The relation of iron status and hemochromatosis gene mutations in patients with chronic hepatitis C. Gastroenterology. 1999;116:127-34.
17. Grove J, Daly AK, Burt AD, Guzail M, James OF, Bassendine MF, et al. Heterozygotes for HFE mutations have no increased risk of advanced alcoholic liver disease. Gut. 1998;43:262-6.
18. Bassett ML, Halliday JW, Powell LW. Value of hepatic iron measurements in early hemochromatosis and determination of the critical iron level associated with fibrosis. Hepatology. 1986;6:24-9.
19. Bacon ER, Sadiq S. Hereditary hemochromatosis: presentation and diagnosis in the 1990s. Am J Gastroenterol. 1997;92:784-9.
20. Bonkovsky HL, Slaker DP, Bills EB, Wolf DC. Usefulness and limitations of laboratory and hepatic imaging studies in iron-storage disease. Gastroenterology. 1990;99:1079-91.
21. Olynyk J, Hall P, Sallie R, Reed W, Shilkin K, Mackinnon M. Computerized measurement of iron in liver biopsies: a comparison with biochemical iron measurement. Hepatology. 1990;12:26-30.
22. Deugnier YM, Turlin B, Powell LW, Summers KM, Moirand R, Fletcher L, et al. Differentiation between heterozygotes and homozygotes in genetic hemochromatosis by means of a histological hepatic iron index: a study of 192 cases. Hepatology. 1993;17:30-4.
23. Searle J, Kerr JF, Halliday JW, Powell LW. Iron storage disease. In: MacSween RN, ed. Pathology of the Liver. 3d ed. Edinburgh: Churchill Livingstone; 1994:223.
24. Torrance JD, Bothwell TH. Tissue iron stores. Methods in Hematology. 1980;1:90-115.
25. Ludwig J, Hashimoto E, Porayko MK, Moyer TP, Baldus WP. Hemosiderosis in cirrhosis: a study of 447 native livers. Gastroenterology. 1997;112: 882-8.
26. Kowdley KV, Trainer TD, Saltzman JR, Pedrosa M, Krawitt EL, Knox TA, et al. Utility of hepatic iron index in American patients with hereditary hemochromatosis: a multicenter study. Gastroenterology. 1997;113:1270-7.
27. Guyader D, Jacquelinet C, Moirand R, Turlin B, Mendler MH, Chaperon J, et al. Noninvasive prediction of fibrosis in C282Y homozygous hemochromatosis. Gastroenterology. 1998;115:929-36.
28. Edwards CQ, Kushner JP. Screening for hemochromatosis. N Engl J Med. 1993;328:1616-20.
29. Adams PC, Gregor JC, Kertesz AE, Valberg LS. Screening blood donors for hereditary hemochromatosis: decision analysis model based on a 30-year database. Gastroenterology. 1995;109:177-88.
30. Adams PC, Speechley M, Kertesz AE. Long-term survival analysis in hereditary hemochromatosis. Gastroenterology. 1991;101:368-72.
31. Niederau C, Fischer R, Purschel A, Stremmel W, Haussinger D, Strohmeyer G. Long-term survival in patients with hereditary hemochromatosis. Gastroenterology. 1996;110:1107-19.
32. Fargion S, Fracanzani AL, Piperno A, Braga M, D'Alba R, Ronchi G, et al. Prognostic factors for hepatocellular carcinoma in genetic hemochromatosis. Hepatology. 1994;20:1426-31.