메뉴 건너뛰기




Volumn 64, Issue 9, 2009, Pages 837-841

Analysis of HFE and non-HFE gene mutations in Brazilian patients with hemochromatosis

Author keywords

Brazil; Gene mutations; Hereditary hemochromatosis; HFE mutations; Iron overload

Indexed keywords

CATION TRANSPORT PROTEIN; HFE PROTEIN, HUMAN; HLA ANTIGEN CLASS 1; MEMBRANE PROTEIN; METAL TRANSPORTING PROTEIN 1; TFR2 PROTEIN, HUMAN; TRANSFERRIN RECEPTOR;

EID: 70349873684     PISSN: 18075932     EISSN: None     Source Type: Journal    
DOI: 10.1590/S1807-59322009000900003     Document Type: Article
Times cited : (12)

References (31)
  • 2
    • 0035038147 scopus 로고    scopus 로고
    • American Association for the Study of Liver Diseases; American College of Gastroenterology; American Gastroenterological Association. Diagnosis and management of hemochromatosis
    • Tavill A S. American Association for the Study of Liver Diseases; American College of Gastroenterology; American Gastroenterological Association. Diagnosis and management of hemochromatosis. Hepatology. 2001;33:1321-8.
    • (2001) Hepatology , vol.33 , pp. 1321-1328
    • Tavill, A.S.1
  • 8
    • 0031814935 scopus 로고    scopus 로고
    • Mutation analysis of the HFE gene associated with hereditary hemochromatosis in African Americans
    • Monaghan KG, Rybicki BA, Shurafa M & Feldman GL. Mutation analysis of the HFE gene associated with hereditary hemochromatosis in African Americans. American Journal of Hematology. 1998;58:213-7.
    • (1998) American Journal of Hematology , vol.58 , pp. 213-217
    • Monaghan, K.G.1    Rybicki, B.A.2    Shurafa, M.3    Feldman, G.L.4
  • 9
    • 0031687548 scopus 로고    scopus 로고
    • Is there a link between African iron overload and the described mutations of the hereditary haemochromatosis gene?
    • McNamara L, MacPhail AP, Gordeuk VR, Hasstedt SJ & Rouault T. Is there a link between African iron overload and the described mutations of the hereditary haemochromatosis gene? British Journal of Haematology. 1998;102:1176-8.
    • (1998) British Journal of Haematology , vol.102 , pp. 1176-1178
    • McNamara, L.1    MacPhail, A.P.2    Gordeuk, V.R.3    Hasstedt, S.J.4    Rouault, T.5
  • 10
    • 0033862920 scopus 로고    scopus 로고
    • Uncommon mutations and polymorphisms in the hemochromatosis: Genetics and beyond
    • Pointon JJ, Wallace D, Merryweather-Clarke AT, Robson KJ. Uncommon mutations and polymorphisms in the hemochromatosis: genetics and beyond. Genet Test. 2000;4:151-61.
    • (2000) Genet Test , vol.4 , pp. 151-161
    • Pointon, J.J.1    Wallace, D.2    Merryweather-Clarke, A.T.3    Robson, K.J.4
  • 11
    • 0036839568 scopus 로고    scopus 로고
    • Mild iron overload in patients carrying the HFE S65C gene mutation: A retrospective study in patients with suspected iron overload and healthy controls
    • Holmström P, Marmur J, Eggertsen G, Gåfvels M, Stål P. Mild iron overload in patients carrying the HFE S65C gene mutation: a retrospective study in patients with suspected iron overload and healthy controls. Gut. 2002;51:723-30.
    • (2002) Gut , vol.51 , pp. 723-730
    • Holmström, P.1    Marmur, J.2    Eggertsen, G.3    Gåfvels, M.4    Stål, P.5
  • 12
    • 0033561342 scopus 로고    scopus 로고
    • HFE mutation analysis in 711 hemochromatosis probands: Evidence for S65C implication in mild form of hemochromatosis
    • Mura C, Raguenes O, Ferec C. HFE mutation analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis. Blood. 1999;93:2502-5.
    • (1999) Blood , vol.93 , pp. 2502-2505
    • Mura, C.1    Raguenes, O.2    Ferec, C.3
  • 13
    • 1442306702 scopus 로고    scopus 로고
    • Non-HFE hemochromatosis
    • Pietrangelo A. Non-HFE hemochromatosis. Hepatology. 2004;39:21-9.
    • (2004) Hepatology , vol.39 , pp. 21-29
    • Pietrangelo, A.1
  • 15
    • 0036683019 scopus 로고    scopus 로고
    • Transferrin receptor 2 TfR2 and HFE mutational analysis in non-C282Y iron overload: Identification of a novel TfR2 mutation
    • Mattman A, Huntsman D, Lockitch G, Langlois S, Buskard N, Ralston D, et al. Transferrin receptor 2 TfR2 and HFE mutational analysis in non-C282Y iron overload: identification of a novel TfR2 mutation. Blood. 2002;100:1075-7.
    • (2002) Blood , vol.100 , pp. 1075-1077
    • Mattman, A.1    Huntsman, D.2    Lockitch, G.3    Langlois, S.4    Buskard, N.5    Ralston, D.6
  • 16
    • 0035353167 scopus 로고    scopus 로고
    • New mutations inactivating transferrin receptor 2 in hemochromatosis type 3
    • Roetto A, Totaro A, Piperno A, Piga A, Longo F, Garozzo G, et al. New mutations inactivating transferrin receptor 2 in hemochromatosis type 3. Blood. 2001;97:2555-60.
    • (2001) Blood , vol.97 , pp. 2555-2560
    • Roetto, A.1    Totaro, A.2    Piperno, A.3    Piga, A.4    Longo, F.5    Garozzo, G.6
  • 18
    • 10744232713 scopus 로고    scopus 로고
    • Iron overload in Africans and African-Americans and a common mutation in SCL40A1 ferroportin gene
    • Gordeuk VR, Caleffi A, Corradini E, Ferrara F, Jones RA, Castro O, et al. Iron overload in Africans and African-Americans and a common mutation in SCL40A1 ferroportin gene. Blood cells Mol Dis. 2003;31:299-304.
    • (2003) Blood cells Mol Dis , vol.31 , pp. 299-304
    • Gordeuk, V.R.1    Caleffi, A.2    Corradini, E.3    Ferrara, F.4    Jones, R.A.5    Castro, O.6
  • 20
    • 0037346258 scopus 로고    scopus 로고
    • Prevalence of C282Y and E168X HFE mutations in an Italian population of Northern European ancestry
    • Salvioni A, Mariani R, Oberkanins C, Moritz A, Mauri V, Pelucchi S, et al. Prevalence of C282Y and E168X HFE mutations in an Italian population of Northern European ancestry. Haematologica. 2003;88:250-53.
    • (2003) Haematologica , vol.88 , pp. 250-253
    • Salvioni, A.1    Mariani, R.2    Oberkanins, C.3    Moritz, A.4    Mauri, V.5    Pelucchi, S.6
  • 21
    • 0037624551 scopus 로고    scopus 로고
    • Phenotypic expression of the C282Y/Q283P compound heterozygosity in HFE and molecular modeling of the Q283P mutation effect
    • Le Gac G, Dupradeau FY, Mura C, Jacolot S, Scotet V, Esnault G, et al. Phenotypic expression of the C282Y/Q283P compound heterozygosity in HFE and molecular modeling of the Q283P mutation effect. Blood Cells Mol Dis 2003;30:231-7.
    • (2003) Blood Cells Mol Dis , vol.30 , pp. 231-237
    • Le Gac, G.1    Dupradeau, F.Y.2    Mura, C.3    Jacolot, S.4    Scotet, V.5    Esnault, G.6
  • 22
    • 0034999045 scopus 로고    scopus 로고
    • Variable phenotypic presentation of iron overload in H63D homozygotes: Are genetic modifiers the cause?
    • 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;48:836-42.
    • (2001) Gut , vol.48 , pp. 836-842
    • Aguilar-Martinez, P.1    Bismuth, M.2    Picot, M.C.3    Thelcide, C.4    Pageaux, G.P.5    Blanc, F.6
  • 23
    • 33845902249 scopus 로고    scopus 로고
    • H63D homozygotes with hyperferritinaemia: Is this genotype, the primary cause of iron overload?
    • de Diego C, Opazo S, Murga MJ, Martinez-Castro P. H63D homozygotes with hyperferritinaemia: Is this genotype, the primary cause of iron overload? Eur J Haematol. 2007; 78:66-71.
    • (2007) Eur J Haematol , vol.78 , pp. 66-71
    • de Diego, C.1    Opazo, S.2    Murga, M.J.3    Martinez-Castro, P.4
  • 24
    • 34249291316 scopus 로고    scopus 로고
    • Assessment of HFE mutations in patients with iron overload
    • Bittencourt PL. Assessment of HFE mutations in patients with iron overload. São Paulo Med J. 2007;125:65-7.
    • (2007) São Paulo Med J , vol.125 , pp. 65-67
    • Bittencourt, P.L.1
  • 26
    • 0035055488 scopus 로고    scopus 로고
    • Hemochromatosis gene variants in three different ethnic populations: Effects of admixture for screening programs
    • Pereira AC, Mota GF & Krieger JE. Hemochromatosis gene variants in three different ethnic populations: effects of admixture for screening programs. Human Biology. 2003,73:145-51.
    • (2003) Human Biology , vol.73 , pp. 145-151
    • Pereira, A.C.1    Mota, G.F.2    Krieger, J.E.3
  • 27
    • 0035046436 scopus 로고    scopus 로고
    • Transferrin receptor-2 TfR2 mutation Y250X in Alabama Caucasian and African American subjects with and without primary iron overload
    • Barton EH, Barton JC, Hollowell WW, Acton RT. Transferrin receptor-2 TfR2 mutation Y250X in Alabama Caucasian and African American subjects with and without primary iron overload. Blood Cells Mol Dis. 2001;27:279-84.
    • (2001) Blood Cells Mol Dis , vol.27 , pp. 279-284
    • Barton, E.H.1    Barton, J.C.2    Hollowell, W.W.3    Acton, R.T.4
  • 29
    • 33644873239 scopus 로고    scopus 로고
    • Ferrportin Q284H mutations in African families with dietary iron overload
    • McNamara L, Gordeuk VR, Macphail AP. Ferrportin Q284H mutations in African families with dietary iron overload. J Gastroenterol Hepatol 2005;20:1855-8.
    • (2005) J Gastroenterol Hepatol , vol.20 , pp. 1855-1858
    • McNamara, L.1    Gordeuk, V.R.2    Macphail, A.P.3
  • 30
    • 34547425285 scopus 로고    scopus 로고
    • SLC40A1 Q248H allele frequencies and Q248H-associated risk of non-HFE iron overload in persons of sub-Saharan African descent
    • Barton JC, Acton RT, Lee PL, West C. SLC40A1 Q248H allele frequencies and Q248H-associated risk of non-HFE iron overload in persons of sub-Saharan African descent. Blood Cells Mol Dis. 2007;39:206-11.
    • (2007) Blood Cells Mol Dis , vol.39 , pp. 206-211
    • Barton, J.C.1    Acton, R.T.2    Lee, P.L.3    West, C.4
  • 31
    • 0030814039 scopus 로고    scopus 로고
    • Genetic and clinical description of hemochromatosis probands and heterozygotes: Evidence that multiple genes linked to the major histocompatibility complex are responsible for hemochromatosis
    • discussion 145a-b
    • Barton JC, Shih WW, Sawada-Hirai R, Acton RT, Harmon L, Rivers C, et al. 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 and Dis. 1997;23:135-45;discussion 145a-b.
    • (1997) Blood Cells Mol and Dis , vol.23 , pp. 135-145
    • Barton, J.C.1    Shih, W.W.2    Sawada-Hirai, R.3    Acton, R.T.4    Harmon, L.5    Rivers, C.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.