The diagnosis of hemochromatosis at the era of the gene;Le diagnostic de l'hemochromatose a l'heure du gene

Annales d'Endocrinologie

Volumn 60, Issue 3, 1999, Pages 210-215

  Brissot, P ^b   Moirand, R ^b   Guyader, D ^b   Jouanolle, A M ^a   David, V ^a   Deugnier, Y ^b  

^a PONTCHAILLOU UNIVERSITY HOSPITAL   (France)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

AMINOTRANSFERASE; FERRITIN; TRANSFERRIN;

AMINOTRANSFERASE BLOOD LEVEL; BLOOD ANALYSIS; CONFERENCE PAPER; FERRITIN BLOOD LEVEL; HEMOCHROMATOSIS; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; IRON OVERLOAD; LIVER BIOPSY; FAMILY HEALTH; GENETICS; HETEROZYGOTE; HOMOZYGOTE; METABOLISM; MUTATION; REVIEW; RISK FACTOR;

FAMILY HEALTH; HEMOCHROMATOSIS; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MUTATION; RISK FACTORS; TRANSFERRIN;

EID: 0032835570     PISSN: 00034266     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Conference Paper

References (32)

1. ADAMS PC. Implications of genotyping of spouses to limit investigation of children in genetic hemovhromatosis. Clin Genet 1998 ; 53 : 176-8.
2. ADAMS PC, DEUGNIER Y, MOIRAND R, BRISSOT P. The relationship between iron overload, clinical symptoms, and age in 410 patients with genetic hemochromatosis. Hepatology 1997 ; 25 : 162-6.
3. BOROT N, ROTH MP, MALFROY L. et al. Mutations in the MCH class I-like candidate gene for hemochromatosis in French patients, Immunogenetics 1997 ; 45 : 320-4.
4. BRISSOT P, BOUREL M, HERRY D et al. Assessment of liver iron content in 271 patients : a reevaluation of direct and indirect methods. Gastroenterology 1981 ; 80 : 557-65.
5. BRISSOT P, DEUGNIER Y. Haemochromatosis. In : N. Mcintyre, J.P. Benhamou, J. Bircher, M. Rizzetto, J. Rodes (eds), Oxford Textbook of Clinical Hepatology. Oxford University Press, Oxford 1999 ; 1379-91.
6. BRISSOT P, DEUGNIER Y, LE TREUT A, REGNOUARD F, SIMON M, BOUREL M. Ascorbic acid status in idiopathic hemochromatosis. Digestion 1978 ; 17 : 479-87.
7. BRISSOT P, MOIRAND R, GUYADER D, LORÉAL O, TURLIN B, DEUGNIER Y. Hemochromatosis after the discovery : revisiting the diagnostic strategy. J Hepatol 1998 ; 28 : 14-18.
8. BRISSOT P, MOIRAND R, JOUANOLLE AM, GUYADER D, LE GALL JY, DEUGNIER Y et al. A genotypic study of 217 unrelated probands diagnosed as « genetic hemochromatosis » on « classical » phenotypic criteria. J. Hepatol 1999 ; 30 : 588-93.
9. BRISSOT P, PIGEON C, MOIRAND R et al. Le métabolisme du fer et son exploration en biologie clinique. Ann Biol Clin 1998 ; 56 : 5-10.
10. BULAJ ZJ, GRIFFEN LM, JORDE LB, EDWARDS CQ, KUSHNER JP. Clinical and biochemical abnormalities in people heterozygous for hemochromatosis. N Engl J Med 1996 ; 335 : 1799-1805.
11. CRAWFORD DHG, JAZWINSKA EC, CULLEN LM, POWELL LW. Expression of HLA-linked hemochromatosis in subjects homozygous or heterozygous for the C282Y mutation. Gastroenterology 1998 ; 114 : 1003-8.
12. CUSTER EM, FINCH CA, SOBEL RE, ZETTNER A. Population norms for serum ferritin. J Lab Clin Med 1995 ; 126 : 88-94.
13. DEUGNIER Y, CHARALAMBOUS P, LE QUILLEUC D et al. Preneoplastic significance of hepatic iron-free foci in genetic hemochromatosis : a study of 185 patients. Hepatology 1993 ; 18 : 1363-9.
14. DEUGNIER Y, LORÉAL O. Iron as a carcinogen. In J.C. Barton, C.Q. Edwards (eds), Hemochromatosis, Cambridge (England). Cambridge University Press, 1999 (in press).
15. DEUGNIER Y, LORÉAL O, TURLIN B et al. Liver pathology in genetic hemochromatosis : a review of 135 homozygous cases and their bioclinical correlations. Gastroenterology 1992 ; 102 : 2050-9.
16. DEUGNIER Y, TURLIN B, POWELL LW 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.
17. 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 1997 ; 21 : 669-75.
18. EDWARDS CQ, KUSHNER JP. Screening for hemochromatosis. N Engl J Med 1993 ; 328 : 1616-20.
19. FEDER JN, GNIRKE A, THOMAS W et al. A novel MHC class 1-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet 1996 ; 13 : 399-408.
20. GANDON Y, GUYADER D, HEAUTOT JF et al. Hemochromatosis : diagnosis and quantification of liver iron with gradient-echo MR imaging. Radiology 1994 ; 194 : 533-8.
21. GUYADER D, JACQUELINET C, MOIRAND R et al. Noninvasive prediction of fibrosis in C282Y homozygous hemochromatosis. Gastroenterology 1998 ; 115 : 929-36.
22. KIECHL S, WILLEIT J, EGGER G, POEWE W, OBERHOLLENZER F. Body iron stores and the risk of carotid atherosclerosis. Circulation 1997 ; 96 : 3300-7.
23. LUDWIG J, HASHIMOTO E, PORAYKO M, MOVER TP, BALDUS W. Hemosiderosis in cirrhosis : a study of 447 native livers. Gastroenterology 1997 ; 112 : 882-8.
24. MARTINEZ PA, BIRON C, BLANC F et al. Compound heterozygotes for hemochromatosis gene mutations : May they help to understand the pathophysiology of the disease ? Blood Cells Mol Dis 1997 ; 23 : 269-76.
25. MOIRAND R, ADAMS P, BICHELER V, BRISSOT P, DEUGNIER Y. Clinical features of genetic hemochromatosis in women compared to men. Ann Intern Med 1997 ; 127 : 105-10.
26. MOIRAND R, LESCOAT G, DELAMAIKE D, LORÉAL O, DEUGNIER Y, BRISSOT P. Increase of glycosylated and non glycosylated serum ferritin in chronic alcoholism and evolution during alcohol withdrawal. Alcohol Clin Exp Res 1991 ; 15 : 963-9.
27. MOIRAND R, MENDLER MH, GUYADER D, JOUANOLLE AM, LE GALL JY, DAVID V, BRISSOT P, DEUGNIER Y. Revisiting biochemical expression in subjects heterozygous for hemochromatosis. Hepatology 1998 ; 28 : 419 A.
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 1997 ; 349 : 95-7.
29. PIPERNO A, SAMPIETRO M, PIETRANGELLO A et al. Heterogeneity of hemochromatosis in Italy. Gastroenterology 1998 ; 114 : 996-1002.
30. ROESER HP. The role of ascorbic acid in the turnover of storage iron. Semin Hematol 1983 ; 20 : 91-100.
31. VILLENEUVE JP, BILODEAU M, LEPAGE R, CÔTÉ J, LEFEBVRE M. Variability in hepatic iron concentration measurement from needle-biopsy specimens. J Hepatol 1996 ; 25 : 172-7.
32. 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. Nature Genet 1995 ; 9 : 267-72.