The Southern French registry of genetic hemochromatosis: A tool for determining clinical prevalence of the disorder and genotype penetrance

Haematologica

Volumn 95, Issue 4, 2010, Pages 551-556

  Aguilar Martinez, Patricia ^a   Bismuth, Michael ^a   Blanc, François ^a   Blanc, Pierre ^a   Cunat, Severine ^a   Dereure, Olivier ^a   Dujols, Pierre ^a   Giansily Blaizot, Muriel ^a   Jorgensen, Christian ^a   Konate, Amadou ^a   Larrey, Dominique ^a   Le Quellec, Alain ^a   Mura, Thibault ^a   Raingeard, Isabelle ^a   Ramos, Jeanne ^a   Renard, Eric ^a   Rousseau, Florence ^a   Schved, Jean François ^a   Picot, Marie Christine ^a  

^a MONTPELLIER UNIVERSITY HOSPITAL   (France)

Author keywords

HFE hemochromatosis; Penetrance; Prevalence; Registry

Indexed keywords

ADULT; ALCOHOL CONSUMPTION; ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE SEVERITY; FEMALE; FRANCE; GENOTYPE; HEMOCHROMATOSIS; HOMOZYGOTE; HUMAN; IRON OVERLOAD; MAJOR CLINICAL STUDY; MALE; PENETRANCE; POPULATION GENETICS; PREVALENCE; REGISTER; SEX DIFFERENCE;

EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; FRANCE; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; GENOTYPE; HEMOCHROMATOSIS; HOMOZYGOTE; HUMANS; IRON OVERLOAD; MALE; MIDDLE AGED; MUTATION; PENETRANCE; REGISTRIES;

EID: 77950656592     PISSN: 03906078     EISSN: 15928721     Source Type: Journal    
DOI: 10.3324/haematol.2009.014431     Document Type: Article

References (20)

1. Smith PM, Godfrey BE, Williams R. Iron absorption in idiopathic haemochromatosis and its measurement using a whole-body counter. Clin Sci. 1969;37(2):519-31.
2. Feder JN, Gnirke A, Thomas W, Tsuchihashi Z, Ruddy DA, Basava A, et al. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet. 1996;13(4):399-408.
3. Rhodes DA, Raha-Chowdhury R, Cox TM, Trowsdale J. Homozygosity for the predom inant Cys282Tyr mutation and absence of disease expression in hereditary haemochromatosis. J Med Genet. 1997; 34(9):761-4.
4. Coppin H, Bensaid M, Fruchon S, Borot N, Blanche H, Roth MP. Longevity and carrying the C282Y mutation for haemochromatosis on the HFE gene: case control study of 492 French centenarians. BMJ. 2003;327(7407):132-3.
5. Beutler E, Felitti VJ, Koziol JA, Ho NJ, Gelbart T. Penetrance of 845G-->A (C282Y) HFE hereditary haemochromatosis mutation in the USA. Lancet. 2002; 359(9302): 211-8.
6. Brissot P, de Bels F. Current approaches to the management of hemochromatosis. Hematology Am Soc Hematol Educ Program. 2006:36-41
7. Brissot P, Troadec MB, Loreal O. The clinical relevance of new insights in iron transport and metabolism. Curr Hematol Rep. 2004;3(2):107-15.
8. Aguilar-Martinez P, Picot MC, Becker F, Boulot P, Montoya F, Mares P, et al. Prevalence of HFE mutations in people from North Africa living in southern France. Br Jaematol. 2001;114(4):914-6.
9. Adams P, Brissot P, Powell LW. EASL International Consensus Conference on Haemochromatosis. J Hepatol. 2000;33(3): 485-504.
10. Aguilar-Martinez P, Bismuth M, Picot MC, Thelcide C, Pageaux GP, Blanc F, et al. Variable phenotypic presentation of iron overload in H63D homozygotes: are genetic modifiers the cause? Gut. 2001;48(6): 836- 42.
11. Breslow NE, Day NE. The design and analy- sis of cohort studies. In: Publications Is, ed. Statistical Method in Cancer Research, 1987.
12. Jouanolle AM, Gandon G, Le Gall JY, David V. [Genetic hemochromatosis]. Ann Biol Clin (Paris) 1998;56 (Spec No):31-5.
13. Cox T, Rochette J, Camaschella C, Walker A, Robson K. Clinical haemochromatosis in HFE mutation carriers. Lancet. 2002;360 (9330):412-4.
14. Allen KJ, Warner B, Delatycki MB. Clinical haemochromatosis in HFE mutation carriers. Lancet. 2002;360(9330):412-3; author reply 3-4.
15. Poullis A, Moodie SJ, Maxwell JD. Clinical haemochromatosis in HFE mutation carriers. Lancet. 2002;360(9330):411-2; author reply 3-4.
16. Asberg A, Hveem K, Thorstensen K, Ellekjter E, Kannelonning K, Fjosne U, et al. Screening for hemochromatosis: high preva- lence and low morbidity in an unselected population of 65,238 persons. Scand J Gastroenterol. 2001;36(10):1108-15.
17. Allen KJ, Gurrin LC, Constantine CC, Osborne NJ, Delatycki MB, Nicoll AJ, et al. Iron-overload-related disease in HFE heredi- tary hemochromatosis. N Engl J Med. 2008;358(3):221-30.
18. Rossi E, Jeffrey GP. Clinical penetrance of C282Y homozygous HFE haemochromatosis. Clin Biochem Rev. 2004;25(3):183-90.
19. Cadet E, Capron D, Gallet M, Omanga-Leke ML, Boutignon H, Julier C, et al. Reverse cascade screening of newborns for hereditary haemochromatosis: a model for other late onset diseases? J Med Genet. 2005;42(5):390-5.
20. Deugnier Y, Jouanolle AM, Chaperon J, Moirand R, Pithois C, Meyer JF, et al. Gender-specific phenotypic expression and screening strategies in C282Y-linked haemochromatosis: a study of 9396 French people. Br J Haematol. 2002;118(4):1170-8.