메뉴 건너뛰기




Volumn 28, Issue 4, 2014, Pages 198-202

Iron overload is rare in patients homozygous for the H63D mutation

Author keywords

Ferritin; Hemochromatosis; HFE

Indexed keywords

ALANINE AMINOTRANSFERASE; ASPARTATE AMINOTRANSFERASE; FERRITIN; TRANSFERRIN; HFE PROTEIN, HUMAN; HLA ANTIGEN CLASS 1; IRON; MEMBRANE PROTEIN;

EID: 84902654426     PISSN: 22912789     EISSN: 22912797     Source Type: Journal    
DOI: 10.1155/2014/468521     Document Type: Article
Times cited : (30)

References (22)
  • 1
    • 0035116099 scopus 로고    scopus 로고
    • Hemochromatosis: Diagnosis and management
    • Bacon BR. Hemochromatosis: Diagnosis and management. Gastroenterology 2001;120:718-25. (Pubitemid 32171642)
    • (2001) Gastroenterology , vol.120 , Issue.3 , pp. 718-725
    • Bacon, B.R.1
  • 3
    • 33644867495 scopus 로고    scopus 로고
    • Prevalence of HFE C282Y and H63D in Jewish populations and clinical implications of H63D homozygosity
    • DOI 10.1111/j.1399-0004.2005.00563.x
    • Matas M, Guix P, Castro JA, et al. Prevalence of HFE C282Y and H63D in Jewish populations and clinical implications of H63D homozygosity. Clin Genet 2006;69:155-62. (Pubitemid 43372280)
    • (2006) Clinical Genetics , vol.69 , Issue.2 , pp. 155-162
    • Matas, M.1    Guix, P.2    Castro, J.A.3    Parera, M.4    Ramon, M.M.5    Obrador, A.6    Picornell, A.7
  • 4
    • 0033764751 scopus 로고    scopus 로고
    • Contribution of different HFE genotypes to iron overload disease: A pooled analysis
    • Burke W, Imperatore G, McDonnell SM, Baron RC, Khoury MJ. Contribution of different HFE genotypes to iron overload disease: A pooled analysis. Gene Med 2000;2:271-7.
    • (2000) Gene Med , vol.2 , pp. 271-277
    • Burke, W.1    Imperatore, G.2    McDonnell, S.M.3    Baron, R.C.4    Khoury, M.J.5
  • 7
    • 67649388066 scopus 로고    scopus 로고
    • Genetic screening for HFE hemochromatosis in 6,020 Danish men: Penetrance of C282Y, H63D, and S65C variants
    • Pedersen P, Milman N. Genetic screening for HFE hemochromatosis in 6,020 Danish men: Penetrance of C282Y, H63D, and S65C variants. Ann Hematol 2009;88:775-84.
    • (2009) Ann Hematol , vol.88 , pp. 775-784
    • Pedersen, P.1    Milman, N.2
  • 8
    • 0030827084 scopus 로고    scopus 로고
    • The significance of the 187G (H63D) mutation in hemochromatosis [2]
    • Beutler E. The significance of the 187G (H63D) mutation in hemochromatosis. Am J Hum Genet 1997;61:762-4. (Pubitemid 27418417)
    • (1997) American Journal of Human Genetics , vol.61 , Issue.3 , pp. 762-764
    • Beutler, E.1
  • 10
    • 0036177909 scopus 로고    scopus 로고
    • A population-based study of the biochemical and clinical expression of the H63D hemochromatosis mutation
    • Gochee PA, Powell LW, Cullen DJ, et al. A population-based study of the biochemical and clinical expression of the H63D hemochromatosis mutation. Gastroenterology 2002;122:646-51. (Pubitemid 34173816)
    • (2002) Gastroenterology , vol.122 , Issue.3 , pp. 646-651
    • Gochee, P.A.1    Powell, L.W.2    Cullen, D.J.3    Du, S.D.4    Rossi, E.5    Olynyk, J.K.6
  • 12
    • 1842579593 scopus 로고    scopus 로고
    • Hemochromatosis mutations in the general population: Iron overload progression rate
    • DOI 10.1182/blood-2003-10-3564
    • Andersen RV, Tybjaerg-Hansen A, Appleyard M, Birgens H, Nordestgaard BG. Hemochromatosis mutations in the general population: Iron overload progression rate. Blood 2004;103:2914-9. (Pubitemid 38451659)
    • (2004) Blood , vol.103 , Issue.8 , pp. 2914-2919
    • Andersen, R.V.1    Tybjaerg-Hansen, A.2    Appleyard, M.3    Birgens, H.4    Nordestgaard, B.G.5
  • 13
    • 33645861936 scopus 로고    scopus 로고
    • Individuals homozygous for the H63D mutation have significantly elevated iron indexes
    • Samarasena J, Winsor W, Lush R, et al. Individuals homozygous for the H63D mutation have significantly elevated iron indexes. Dig Dis Sci 2006;51:803-7.
    • (2006) Dig Dis Sci , vol.51 , pp. 803-807
    • Samarasena, J.1    Winsor, W.2    Lush, R.3
  • 14
    • 38349079861 scopus 로고    scopus 로고
    • Iron overload-related disease in HFE hereditary hemochromatosis
    • Allen KJ, Gurrin LC, Constantine CC, et al. Iron overload-related disease in HFE hereditary hemochromatosis. N Engl J Med 2008;358:221-30.
    • (2008) N Engl J Med , vol.358 , pp. 221-230
    • Allen, K.J.1    Gurrin, L.C.2    Constantine, C.C.3
  • 15
    • 85021209057 scopus 로고    scopus 로고
    • Hemochromatosis gene mutations in Newfoundland and their association with iron indices and transaminase levels
    • Kelley M, Joshi N, Xie Y, Borgaonkar M. Hemochromatosis gene mutations in Newfoundland and their association with iron indices and transaminase levels. Gut 2010;59:A313.
    • (2010) Gut , vol.59
    • Kelley, M.1    Joshi, N.2    Xie, Y.3    Borgaonkar, M.4
  • 16
    • 77954681696 scopus 로고    scopus 로고
    • Effects of C282Y, H63D, and S65C HFE gene mutations, diet, and life-style factors on iron status in a general Mediterranean population from Tarragona, Spain
    • Aranda N, Viteri FE, Montserrat C, Arija V. Effects of C282Y, H63D, and S65C HFE gene mutations, diet, and life-style factors on iron status in a general Mediterranean population from Tarragona, Spain. Ann Hematol 2010;89:767-73.
    • (2010) Ann Hematol , vol.89 , pp. 767-773
    • Aranda, N.1    Viteri, F.E.2    Montserrat, C.3    Arija, V.4
  • 17
    • 0002878060 scopus 로고    scopus 로고
    • Prevalence and penetrance of HFE mutations in 4865 unselected primary care patients
    • Phatak PD, Ryan DH, Cappuccio J, et al. Prevalence and penetrance of HFE mutations in 4865 unselected primary care patients. Blood Cells Mol Dis 2002;29:41-7.
    • (2002) Blood Cells Mol Dis , vol.29 , pp. 41-47
    • Phatak, P.D.1    Ryan, D.H.2    Cappuccio, J.3
  • 19
    • 78649827952 scopus 로고    scopus 로고
    • Hemochromatosis genotypes and risk of iron overload - A meta-analysis
    • Neghina AM, Anghel A. Hemochromatosis genotypes and risk of iron overload - a meta-analysis. Ann Epidemiol 2011;21:1-14.
    • (2011) Ann Epidemiol , vol.21 , pp. 1-14
    • Neghina, A.M.1    Anghel, A.2
  • 22
    • 33845902249 scopus 로고    scopus 로고
    • H63D homozygotes with hyperferritinaemia: Is this genotype, the primary cause of iron overload?
    • DOI 10.1111/j.1600-0609.2006.00775.x
    • Diego C de, Opazo S, Murga MJ, Martínez-Castro P. H63D homozygotes with hyperferritinaemia: Is this genotype, the primary cause of iron overload? Eur J Haematol 2007;78:66-71. (Pubitemid 46018561)
    • (2007) European Journal of Haematology , vol.78 , Issue.1 , pp. 66-71
    • De Diego, C.1    Opazo, S.2    Murga, M.J.3    Martinez-Castro, P.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.