Hepatic iron overload: Direct HFE (HLA-H) mutation analysis vs quantitative iron assays for the diagnosis of hereditary hemochromatosis

American Journal of Clinical Pathology

Volumn 109, Issue 5, 1998, Pages 577-584

  Press, Richard D ^a,b   Flora, Ken ^b   Gross, Cindy ^b   Rabkin, John M ^a,c   Corless, Christopher L ^a,c  

^a OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^b OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^c PORTLAND VA MEDICAL CENTER   (United States)

Author keywords

Diagnosis; Genetics; Hemochromatosis; Hemosiderosis; HFE; HLA antigens; Iron overload; Liver cirrhosis; Mutation

Indexed keywords

FERRITIN; HLA ANTIGEN; IRON; MAJOR HISTOCOMPATIBILITY ANTIGEN CLASS 1; TRANSFERRIN;

ADULT; AGED; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; CONTROLLED STUDY; DIAGNOSTIC TEST; FEMALE; GENE MUTATION; GENETIC DISORDER; GENOTYPE; HEMOCHROMATOSIS; HUMAN; HUMAN TISSUE; INTERMETHOD COMPARISON; IRON BLOOD LEVEL; IRON OVERLOAD; LIVER CIRRHOSIS; LIVER DISEASE; MALE; PRIORITY JOURNAL;

EID: 0031919860     PISSN: 00029173     EISSN: None     Source Type: Journal    
DOI: 10.1093/ajcp/109.5.577     Document Type: Article

References (27)

1. Edwards CQ, Griffen LM, Goldgar D, et al. Prevalence of hemochromatosis among 11,065 presumably healthy blood donors. N Engl J Med. 1988;318:1355-1362.
2. McLaren CE, Gordeuk VR, Looker AC, et al. Prevalence of heterozygotes for hemochromatosis in the white population of the United States. Blood. 1995;86:2021-2027.
3. Adams PC, Deugnier Y, Moirand R, et al. The relationship between iron overload, clinical symptoms, and age in 410 patients with genetic hemochromatosis. Hepatology. 1997;25:162-166.
4. Kowdley KV, Hassanein T, Kaur S, et al. Primary liver cancer and survival in patients undergoing liver transplantation for hemochromatosis. Liver Transplant Surg. 1995;1:237-241.
5. Niederau C, Fischer R, Sonnenberg A, et al. Survival and causes of death in cirrhotic and in noncirrhotic patients with primary hemochromatosis. N Engl J Med. 1985;313:1256-1262.
6. Niederau C, Fischer R, Purschel A, et al. Long-term survival in patients with hereditary hemochromatosis. Gastroenterology. 1996;110:1107-1119.
7. Feder JN, Gnirke A, Thomas W, et al. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet. 1996;13:399-408.
8. Beutler E, Gelbart T, West C, et al. Mutation analysis in hereditary hemochromatosis. Blood Cell Mol Dis. 1996;22:187-194.
9. Jouanolle AM, Gandon G, Jezequel P, et al. Haemochromatosis and HLA-H. Nat Genet. 1996;14:251-252.
10. Jazwinska EC, Cullen LM, Busfield F, et al. Haemochromatosis and HLA-H. Nat Genet. 1996;14:249-251.
11. Rothenberg BE, Voland JR. beta2 knockout mice develop parenchymal iron overload: a putative role for class I genes of the major histocompatibility complex in iron metabolism. Proc Natl Acad Sci USA. 1996;93:1529-1534.
12. Ludwig J, Hashimoto E, Porayko MK, et al. Hemosiderosis in cirrhosis: a study of 447 native livers. Gastroenterology. 1997;112:882-888.
13. Witte DL, Crosby WH, Edwards CQ, et al. Practice guideline development task force of the College of American Pathologists: hereditary hemochromatosis. Clin Chim Acta. 1996;245:139-200.
14. 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;6:24-29.
15. Sallie RW, Reed WD, Shilkin KB. Confirmation of the efficacy of hepatic tissue iron index in differentiating genetic haemochromatosis from alcoholic liver disease complicated by alcoholic haemosiderosis. Gut. 1991;32:207-210.
16. Summers KM, Halliday JW, Powell LW. Identification of homozygous hemochromatosis subjects by measurement of hepatic iron index. Hepatology. 1990;12:20-25.
17. Haque S, Chandra B, Gerber MA, et al. Iron overload in patients with chronic hepatitis C: a clinicopathologic study. Hum Pathol 1996;27:1277-1281.
18. Bonkovsky HL, Banner BF, Rothman AL. Iron and chronic viral hepatitis. Hepatology. 1997;25:759-768.
19. Farrell FJ, Nguyen M, Woodley S, et al. Outcome of liver transplantation in patients with hemochromatosis. Hepatology. 1994;20:404-410.
20. Scheuer PJ, Williams R, Muir AR. Hepatic pathology in relatives of patients with haemochromatosis. J Pathol Bacteriol. 1962;84:53-64.
21. Press RD, Liu X-Y, Beamer N, et al. Ischemic stroke in the elderly: role of the common factor V mutation causing resistance to activated protein C. Stroke. 1996;27:44-48.
22. Frank TS, Svoboda-Newman SM, Hsi ED. Comparison of methods for extracting DNA from formalin-fixed paraffin sections for nonisotopic PCR. Diagn Mol Pathol. 1996;5:220-224.
23. 2-microglobulin interaction and cell surface expression. J Biol Chem. 1997;272:14025-14028.
24. Loreal O, Deugnier Y, Moirand R, et al. Liver fibrosis in genetic hemochromatosis: respective roles of iron and non-iron-related factors in 127 homozygous patients. J Hepatol. 1992;16:122-127.
25. Powell LW. Normal human iron storage and its relation to ethanol consumption. Australas Ann Med. 1966;15:110-115.
26. Powell LW. The role of alcoholism in hepatic iron storage disease. Ann N Y Acad Sci. 1975;252:124-134.
27. 1-antitrypsin deficiency and genetic hemochromatosis. Hepatology. 1992;16:145-148.