A genotypic study of 217 unrelated probands diagnosed as 'genetic hemochromatosis' on 'classical' phenotypic criteria

Journal of Hepatology

Volumn 30, Issue 4, 1999, Pages 588-593

  Brissot, Pierre ^a   Moirand, Romain ^a   Jouanolle, Anne Marie ^b   Guyader, Dominique ^a   Gall, Jean Yves Le ^b   Deugnier, Yves ^a   David, V Éronique ^b  

^a INSERM   (France)

^b CNRS   (France)

Author keywords

Family screening; Hemochromatosis; HFE mutation; Iron overload; Liver biopsy; Transferrin saturation

Indexed keywords

HLA ANTIGEN; TRANSFERRIN;

ARTICLE; GENE EXPRESSION; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; GENOTYPE; HEMOCHROMATOSIS; HLA SYSTEM; HUMAN; IRON OVERLOAD; LIVER BIOPSY; MAJOR CLINICAL STUDY; PHENOTYPE; PRIORITY JOURNAL;

EID: 0033066062     PISSN: 01688278     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0168-8278(99)80188-3     Document Type: Article

References (37)

1. Feder J.N., Gnirke A., Thomas W., Tsuschihashi Z., Ruddy D.A., Basava A., et al. A novel MHC class 1-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet. 13:1996;399-408.
2. Beutler E., Gelbart T., West C., Lee P., Adams M., Blackstone R., et al. Mutation analysis in hereditary hemochromatosis. Blood Cells Mol Dis. 22:1996;187-194.
3. Datz C., Lalloz M.R.A., Vogel W., Graziadei I., Hackl F., Vautier G., et al. Predominance of the HLA-H Cys282Tyr mutation in Austrian patients with genetic hemochromatosis. J Hepatol. 27:1997;773-779.
4. Jouanolle A.M., Gandon G., Jézéquel P., Blayau M., Campion M.L., Yaouanq J., et al. Haemochromatosis and HLA-H. Nat Genet. 14:1996;251-252.
5. The UK Haemochromatosis Consortium. A simple genetic test identifies 90% of UK patients with haemochromatosis. Gut. 41:1997;841-844.
6. Adams P.C., Chakrabarti S. Genotypic/phenotypic correlations in genetic hemochromatosis: evolution of diagnostic criteria. Gastroeneterology. 114:1998;319-323.
7. Henderson S., Rossi E., Chin C., Sallie R., Olynyk J., Reed W., et al. HFE genotyping of a western Australian genetic haemochromatosis population. [abstract] Hepatology. 26:(4 Pt2):1997;522A.
8. Jazwinska E.C., Cullen L.M., Busfield F., Pyper W.R., Webb S.I., Powell L.W., et al. Haemochromatosis and HLA-H. Nat Genet. 14:1996;249-251.
9. Borot N., Roth M.P., Malfroy L., Demangel C., Vinel J.P., Pascal J.P., et al. Mutations in the MCH class I-like candidate gene for hemochromatosis in French patients. Immunogenetics. 45:1997;320-324.
10. Carella M., D'Ambrosio L., Totaro A., Grifa A., Valentino M.A., Piperno A., et al. Mutation analysis of the HLA-H gene in Italian hemochromatosis patients. Am J Hum Genet. 60:1997;828-832.
11. Barton J.C., Shih W.W.H., Sawada-Hirai R., Acton R.T., Harmon L., Rivers C. Genetic and clinical description of hemochromatosis probands and heterozygotes: evidence that multiple genes linked to the major histocompatibility complex are responsible for hemochromatosis. Blood Cells Mol Dis. 23:1997;135-145.
12. Deugnier Y., Loréal O., Turlin B., Guyader D., Jouanolle H., Moirand R., et al. Liver pathology in genetic hemochromatosis: a review of 135 homozygous cases and their bioclinical correlations. Gastroenterology. 102:1992;2050-2059.
13. Brissot P., Guyader D., Moirand R., Sapey T., Mendler M.H., Deugnier Y., et al. Serum iron markers and the diagnosis of iron overload. Report of a joint WHO/Hemochromatosis Foundation/Canadian, French and UK Hemochromatosis Associations. Meeting on the Prevention and Control of Hemochromatosis: improved diagnosis 1997 St Malo, France. 18 June;. (in press).
14. Bassett M.L., Halliday J.W., Powell L.W. Value of hepatic iron measurements in early hemochromatosis and determination of the critical iron level associated with fibrosis. Hepatology. 6:1986;24-29.
15. Deugnier Y.M., Turlin B., Powell L.W., Summers K.M., 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. 17:1993;30-34.
16. Barry M., Sherlock S. Measurement of liver iron concentration in needle-biopsy specimens. Lancet. i:1971;100-103.
17. Brissot P., Bourel M., Herry D., Verger J.P., Messner M., Beaumont C., et al. Assessment of liver iron content in 271 patients: a reevaluation of direct and indirect methods. Gastroenterology. 80:1981;557-565.
18. Gandon Y., Guyader D., Heautot J.F., Reda M.I., Yaouanq J., Buhé T., et al. Hemochromatosis: diagnosis and quantification of liver iron with gradient-echo MR imaging. Radiology. 194:1994;533-538.
19. Brissot, Deugnier Y. Genetic haemochromatosis. Oxford Textbook of Clinical Hepatology, 2nd ed. 1999;Oxford University Press. in press.
20. Deugnier Y., Charalambous P., Le Quilleuc D., Turlin B., Searle J., Brissot P., et al. Preneoplastic significance of iron-free foci in genetic hemochromatosis: a study of 185 patients. Hepatology; 18:1993;1363-1369.
21. Edwards C.Q., Kushner J.P. Screening for hemochromatosis. N Engl J Med. 328:1993;1616-1620.
22. Edwards C.Q., Griffen L.M., Kaplan J., Kushner J.P. Twenty-four hour variation of transferrin saturation in treated and untreated haemochromatosis homozygotes. J Intern Med. 226:1989;373-379.
23. Villeneuve J.P., Bilodeau M., Lepage R., Côté J., Lefebvre M. Variability in hepatic iron concentration measurement from needlebiopsy specimens. J Hepatol. 25:1996;172-177.
24. Ludwig J., Hashimoto E., Porayko M.K., Moyer T.P., Baldus W. Hemosiderosis in cirrhosis: a study of 447 native livers. Gastroenterology. 112:1997;882-888.
25. Deugnier Y., Turlin B., Le Quilleuc D., Moirand R., Loréal O., Messner M., et al. A reappraisal of liver siderosis in patients with end-stage cirrhosis: practical implications in the diagnosis hemochromatosis. Am J Surg Pathol. 21:1997;669-675.
26. Kowdley K.V., Trainer T.D., Saltzman J.R., Pedrosa M., Krawitt E.L., Knox T.A., et al. Utility of hepatic iron index in American patients: a multicenter study. Gastroenterology. 117:1997;1270-1277.
27. Adams P.C., Bradley C., Henderson A.R. Evaluation of the hepatic iron index as a diagnostic criterion for genetic hemochromatosis. J Lab Clin Med. 130:1997;509-514.
28. Moirand R., Mortaji A., Loréal O., Paillard F., Brissot P., Deugnier Y. A new syndrome of liver iron overload with normal transferrin saturation. Lancet. 349:1997;95-97.
29. Beutler E. The significance of the 187G (H63D) mutation in hemochromatosis. Am J Hum Genet. 61:1997;762-764.
30. Aguilar Martinez P., Biron C., Blanc F., Masmejean C., Jeanjean P., Michel H., et al. Compound heterozygotes for hemochromatosis gene mutations: may they help to understand the pathophysiology of the disease? Blood Cells Mol Dis. 23:1997;269-276.
31. Yoshida K., Furihata K., Takeda S., Nakamura A., Yamamoto K., Morita H., et al. A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans. Nat Genet. 9:1995;267-272.
32. Adams P.C., Campion M.L., Gandon G., LeGall J.Y., David V., Jouanolle A.M. Clinical and family studies in genetic hemochromatosis: microsatellite and HFE studies in five atypical families. Hepatology. 26:1997;986-990.
33. Rhodes D.A., Raha-Chowdhury R., Cox T.M., Trowsdale J. Homozygosity for the predominant Cys282Tyr mutation and absence of disease expression in hereditary haemochromatosis. Gut. 34:1997;761-764.
34. Crawford D.H.G., Jazwinska E.C., Cullen L.M., Powell L.W. Expression of HLA-linked hemochromatosis in subjects homozygous or heterozygous for the C282Y mutation. Gastroentrology. 114:1998;1003-1008.
35. Cullen L.M., Summerville L., Glassick T.V., Crawford D.H.G., Powell L.W., Jazwinska E. Neonatal screening for the hemochromatosis defect. Blood. 90:1997;4236-4237.
36. Roberts A.G., Whatley S.D., Morgan R.R., Worwood M., Elder G.H. Increased frequency of the haemochromatosis C282Y mutation in sporadic porphyria cutanea tarda. Lancet. 349:1997;321-323.
37. Santos M., Clevers H.C., Marx J.J.M. Mutations of the hereditary hemochromatosis candidate gene HLA-H in porphyria cutanea tarda. N Engl J Med. 336:1997;1327-1328.