Family screening in patients with genetic hemochromatosis;Prise en charge d'une famille atteinte de'hemochromatose genetique

Gastroenterologie Clinique et Biologique

Volumn 20, Issue 5 BIS, 1996, Pages

  Moirand, Romain ^a   Brissot, Pierre ^a   Deugnier, Yves ^a  

^a PONTCHAILLOU UNIVERSITY HOSPITAL   (France)

Author keywords

Family screening; Genetics; Hemochromatosis; HLA antigens

Indexed keywords

HLA ANTIGEN;

CHROMOSOME 6; CONFERENCE PAPER; DIABETES MELLITUS; FAMILY HISTORY; FATIGUE; GENETIC RISK; GENETIC SCREENING; HEART FAILURE; HEMOCHROMATOSIS; HEPATOMEGALY; HLA TYPING; HUMAN; LIVER CIRRHOSIS; LIVER FIBROSIS; PHENOTYPE; PROGNOSIS;

FEMALE; GENETIC SCREENING; HEMOCHROMATOSIS; HUMANS; MALE; MIDDLE AGED; PROGNOSIS;

EID: 0029783979     PISSN: 03998320     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Conference Paper

References (17)

1. Brissot P, Moirand R, Guyader D, Deugnier Y. Surcharges en fer. Encycl Med Chir 1995; 7-200-A-10.
2. Pawlotsky Y. Hémochromatose génétique. Arthropathies et fonction parathyroïdienne. Presse Med 1993; 22: 1988-90.
3. Cazzola M, Ascari E, Barosi G, Claudiani G, Dacco M, Kaltwasser JP, et al. Juvenile idiopathic haemochromatosis: a lifethreatening disorder presenting as hypogonadotropic hypogonadism. Hum Genet 1983; 65: 149-54.
4. Adams PC, Kertesz AE, Valberg LS. Clinical presentation of hemochromatosis: a changing scene. Am J Med 1991; 90: 445-9.
5. Edwards CQ, Cartwright GE, Skolnick MH, Amos DB. Homozygosity for hemochromatosis: clinical manifestations. Ann Intern Med 1980; 93: 519-25.
6. 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.
7. Loreal O, Deugnier Y, Moirand R, Lauvin L, Guyader D, Jouanolle H, et al. Liver fibrosis in genetic hemochromatosis. Respective roles of iron and non-iron-related factors in 127 homozygous patients. J Hepatol 1992; 16: 122-7.
8. Powell LW, Summers KM, Board PG, Axelsen E, Webb S, Halliday JW. Expression of hemochromatosis in homozygous subjects. Implications for early diagnosis and prevention. Gastroenterology 1990; 98: 1625-32.
9. Adams PC, Speechley M, Kertesz AE. Long-term survival analysis in hereditary hemochromatosis. Gastroenterology 1991; 101:368-72.
10. Niederau C, Fisher 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.
11. Fargion S, Mandelli C, Piperno A, Cesana B, Fracanzani AL, Fraquelli M, et al. Survival and prognostic factors in 212 Italian patients with genetic hemochromatosis. Hepatology 1992; 15: 655-9.
12. Deugnier YM, Guyader D, Crantock L, Lopez JM, Turlin B, Yaouanq J, et al. Primary liver cancer in genetic hemochromatosis: a clinical, pathological, and pathogenetic study of 54 cases. Gastroenterology 1993; 104: 228-34.
13. Cundy T, Butler J, Bomford A, Williams R. Reversibility of hypogonadotrophic hypogonadism associated with genetic haemochromatosis. Clin Endocrinol 1993; 38: 617-20.
14. Simon M, Bourel M, Genetet B, Fauchet R. Idiopathic hemochromatosis. Demonstration of recessive transmission and early detection by family HLA typing. N Engl J Med 1977; 297: 1017-21.
15. Yaouanq J, El Kahloun A, Chorney M, Jouanolle AM, Mauvieux V, Perichon M, et al. Familial screening for genetic haemochromatosis by means of DNA markers. J Med Genet 1992; 29: 320-2.
16. Jazwinska EC, Lee SC, Webb SI, Halliday JW, Powell LW. Localization of the hemochromatosis gene close to D6S105. Am J Hum Genet 1993; 53: 347-52.
17. Yaouanq J, Perichon M, Chorney M, Pontarotti P, Le Treut A, El Kahloun A, et al. Anonymous marker loci within 400 kb of HLA-A generate haplotypes in linkage disequilibrium with the hemochromatosis gene (HFE). Am J Hum Genet 1994; 54: 252-63.