메뉴 건너뛰기




Volumn 22, Issue 11, 2008, Pages 923-930

Clinical manifestations of hemochromatosis in HFE C282Y homozygotes identified by screening

(14)  McLaren, Gordon D a,b   McLaren, Christine E b   Adams, Paul C c   Barton, James C d   Reboussin, David M e   Gordeuk, Victor R f   Acton, Ronald T g   Harris, Emily L h,i   Speechley, Mark R j   Sholinsky, Phyliss k   Dawkins, Fitzroy W f   Snively, Beverly M e   Vogt, Thomas M l   Eckfeldt, John H m  


Author keywords

Complications; Cross sectioned study; Hemochromatosis; HFE; Iron overload; Prevalence

Indexed keywords

ALANINE AMINOTRANSFERASE; ASPARTATE AMINOTRANSFERASE; C REACTIVE PROTEIN; GAMMA GLUTAMYLTRANSFERASE; HFE PROTEIN; DNA; HFE PROTEIN, HUMAN; HLA ANTIGEN CLASS 1; IRON; MEMBRANE PROTEIN; UNCLASSIFIED DRUG;

EID: 59149090150     PISSN: 08357900     EISSN: None     Source Type: Journal    
DOI: 10.1155/2008/907356     Document Type: Article
Times cited : (57)

References (52)
  • 1
    • 0001019873 scopus 로고
    • Primary iron overload
    • Brock JH, Halliday JW, Pippard MJ, Powell LW, eds, Philadelphia: WB Saunders
    • Powell LW, Jazwinska E, Halliday JW. Primary iron overload. In: Brock JH, Halliday JW, Pippard MJ, Powell LW, eds. Iron Metabolism in Health and Disease. Philadelphia: WB Saunders, 1994:227-270.
    • (1994) Iron Metabolism in Health and Disease , pp. 227-270
    • Powell, L.W.1    Jazwinska, E.2    Halliday, J.W.3
  • 2
    • 2542560427 scopus 로고    scopus 로고
    • Hereditary hemochromatosis - a new look at an old disease
    • Pietrangelo A. Hereditary hemochromatosis - a new look at an old disease. N Engl J Med 2004;350:2383-97.
    • (2004) N Engl J Med , vol.350 , pp. 2383-2397
    • Pietrangelo, A.1
  • 3
    • 0033848697 scopus 로고    scopus 로고
    • Adams P, Brissot P, Powell LW. EASL International Consensus Conference on Haemochromatosis. J Hepatol 2000;33:485-504.
    • Adams P, Brissot P, Powell LW. EASL International Consensus Conference on Haemochromatosis. J Hepatol 2000;33:485-504.
  • 5
    • 0035038147 scopus 로고    scopus 로고
    • Diagnosis and management of hemochromatosis
    • Tavill AS. Diagnosis and management of hemochromatosis. Hepatology 2001;33:1321-8.
    • (2001) Hepatology , vol.33 , pp. 1321-1328
    • Tavill, A.S.1
  • 6
    • 9344224529 scopus 로고    scopus 로고
    • A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis
    • Feder JN, Gnirke A, Thomas W, et al. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet 1996;13:399-408.
    • (1996) Nat Genet , vol.13 , pp. 399-408
    • Feder, J.N.1    Gnirke, A.2    Thomas, W.3
  • 8
    • 18344401294 scopus 로고    scopus 로고
    • Rochette J, Pointon JJ, Fisher CA, et al. Multicentric origin of hemochromatosis gene (HFE) mutations. Am J Hum Genet 1999;64:1056-62. [Erratum in Am J Hum Genet 1999;64:1491.].
    • Rochette J, Pointon JJ, Fisher CA, et al. Multicentric origin of hemochromatosis gene (HFE) mutations. Am J Hum Genet 1999;64:1056-62. [Erratum in Am J Hum Genet 1999;64:1491.].
  • 10
    • 34249746554 scopus 로고    scopus 로고
    • Geographic and racial/ethnic differences in HFE mutation frequencies in the Hemochromatosis and Iron Overload Screening (HEIRS) Study
    • Acton RT, Barton JC, Snively BM, et al. Geographic and racial/ethnic differences in HFE mutation frequencies in the Hemochromatosis and Iron Overload Screening (HEIRS) Study. Ethn Dis 2006;16:815-21.
    • (2006) Ethn Dis , vol.16 , pp. 815-821
    • Acton, R.T.1    Barton, J.C.2    Snively, B.M.3
  • 11
    • 0035425811 scopus 로고    scopus 로고
    • HFE gene and hereditary hemochromatosis: A HuGE review. Human Genome Epidemiology
    • Hanson EH, Imperatore G, Burke W. HFE gene and hereditary hemochromatosis: A HuGE review. Human Genome Epidemiology. Am J Epidemiol 200l;154:193-206.
    • Am J Epidemiol , vol.200 l , Issue.154 , pp. 193-206
    • Hanson, E.H.1    Imperatore, G.2    Burke, W.3
  • 13
    • 0030604479 scopus 로고    scopus 로고
    • Practice guideline development task force of the College of American Pathologists. Hereditary hemochromatosis
    • Witte DL, Crosby WH, Edwards CQ, Fairbanks VF, Mitros FA. Practice guideline development task force of the College of American Pathologists. Hereditary hemochromatosis. Clin Chim Acta 1996;245:139-200.
    • (1996) Clin Chim Acta , vol.245 , pp. 139-200
    • Witte, D.L.1    Crosby, W.H.2    Edwards, C.Q.3    Fairbanks, V.F.4    Mitros, F.A.5
  • 14
    • 25444500981 scopus 로고    scopus 로고
    • Screening primary care patients for hereditary hemochromatosis with transferrin saturation and serum ferritin level: Systematic review for the American College of Physicians
    • Schmitt B, Golub RM, Green R. Screening primary care patients for hereditary hemochromatosis with transferrin saturation and serum ferritin level: systematic review for the American College of Physicians. Ann Intern Med 2005;143:522-36.
    • (2005) Ann Intern Med , vol.143 , pp. 522-536
    • Schmitt, B.1    Golub, R.M.2    Green, R.3
  • 15
    • 17944369464 scopus 로고    scopus 로고
    • Screening for hemochromatosis: High prevalence and low morbidity in an unselected population of 65,238 persons
    • Asberg A, Hveem K, Thorstensen K, et al. Screening for hemochromatosis: High prevalence and low morbidity in an unselected population of 65,238 persons. Scand J Gastroenterol 2001;36:1108-15.
    • (2001) Scand J Gastroenterol , vol.36 , pp. 1108-1115
    • Asberg, A.1    Hveem, K.2    Thorstensen, K.3
  • 16
    • 0037132786 scopus 로고    scopus 로고
    • Penetrance of 845G → A (C282Y) HFE hereditary haemochromatosis mutation in the USA
    • Beutler E, Felitti VJ, Koziol JA, Ho NJ, Gelbart T. Penetrance of 845G → A (C282Y) HFE hereditary haemochromatosis mutation in the USA. Lancet 2002;359:211-8.
    • (2002) Lancet , vol.359 , pp. 211-218
    • Beutler, E.1    Felitti, V.J.2    Koziol, J.A.3    Ho, N.J.4    Gelbart, T.5
  • 17
    • 0035990185 scopus 로고    scopus 로고
    • Persons with screening-detected haemochromatosis: As healthy as the general population?
    • Asberg A, Hveem K, Kruger O, Bjerve KS. Persons with screening-detected haemochromatosis: As healthy as the general population? Scand J Gastroenterol 2002;37:719-24.
    • (2002) Scand J Gastroenterol , vol.37 , pp. 719-724
    • Asberg, A.1    Hveem, K.2    Kruger, O.3    Bjerve, K.S.4
  • 18
    • 33645121766 scopus 로고    scopus 로고
    • Iron loading and morbidity among relatives of HFE C282Y homozygotes identified either by population genetic testing or presenting as patients
    • McCune CA, Ravine D, Carter K, et al. Iron loading and morbidity among relatives of HFE C282Y homozygotes identified either by population genetic testing or presenting as patients. Gut 2006;55:554-62.
    • (2006) Gut , vol.55 , pp. 554-562
    • McCune, C.A.1    Ravine, D.2    Carter, K.3
  • 19
    • 33746802494 scopus 로고    scopus 로고
    • Screening for hemochromatosis: Recommendation statement
    • US Preventive Services Task Force
    • US Preventive Services Task Force. Screening for hemochromatosis: Recommendation statement. Ann Intern Med 2006;145:204-8.
    • (2006) Ann Intern Med , vol.145 , pp. 204-208
  • 20
    • 0037326566 scopus 로고    scopus 로고
    • Hemochromatosis and Iron Overload Screening (HEIRS) study design for an evaluation of 100,000 primary care-based adults
    • McLaren CE, Barton JC, Adams PC, et al. Hemochromatosis and Iron Overload Screening (HEIRS) study design for an evaluation of 100,000 primary care-based adults. Am J Med Sci 2003;325:53-62.
    • (2003) Am J Med Sci , vol.325 , pp. 53-62
    • McLaren, C.E.1    Barton, J.C.2    Adams, P.C.3
  • 21
    • 0026877917 scopus 로고
    • The MOS 36-item short-form health survey (SF-36). I. Conceptual framework and item selection
    • Ware JE, Jr, Sherbourne CD. The MOS 36-item short-form health survey (SF-36). I. Conceptual framework and item selection. Med Care 1992;30:473-83.
    • (1992) Med Care , vol.30 , pp. 473-483
    • Ware Jr, J.E.1    Sherbourne, C.D.2
  • 22
    • 0032775931 scopus 로고    scopus 로고
    • Polymorphism in intron 4 of HFE may cause overestimation of C282Y homozygote prevalence in haemochromatosis
    • Jeffrey GP, Chakrabarti S, Hegele RA, Adams PC. Polymorphism in intron 4 of HFE may cause overestimation of C282Y homozygote prevalence in haemochromatosis. Nat Genet 1999;22:325-6.
    • (1999) Nat Genet , vol.22 , pp. 325-326
    • Jeffrey, G.P.1    Chakrabarti, S.2    Hegele, R.A.3    Adams, P.C.4
  • 23
    • 21144458591 scopus 로고    scopus 로고
    • Comparison of the unsaturated iron-binding capacity with transferrin saturation as a screening test to detect C282Y homozygotes for hemochromatosis in 101,168 participants in the hemochromatosis and iron overload screening (HEIRS) Study
    • Adams PC, Reboussin DM, Leiendecker-Foster C, et al. Comparison of the unsaturated iron-binding capacity with transferrin saturation as a screening test to detect C282Y homozygotes for hemochromatosis in 101,168 participants in the hemochromatosis and iron overload screening (HEIRS) Study. Clin Chem 2005;51:1048-52.
    • (2005) Clin Chem , vol.51 , pp. 1048-1052
    • Adams, P.C.1    Reboussin, D.M.2    Leiendecker-Foster, C.3
  • 24
    • 20244372858 scopus 로고    scopus 로고
    • Hemochromatosis and iron-overload screening in a racially diverse population
    • Adams PC, Reboussin DM, Barton JC, et al. Hemochromatosis and iron-overload screening in a racially diverse population. N Engl J Med 2005;352:1769-78.
    • (2005) N Engl J Med , vol.352 , pp. 1769-1778
    • Adams, P.C.1    Reboussin, D.M.2    Barton, J.C.3
  • 26
    • 0032401707 scopus 로고    scopus 로고
    • Prevalence of hereditary hemochromatosis in 16031 primary care patients
    • Phatak PD, Sham RL, Raubertas RF, et al. Prevalence of hereditary hemochromatosis in 16031 primary care patients. Ann Intern Med 1998;129:954-61.
    • (1998) Ann Intern Med , vol.129 , pp. 954-961
    • Phatak, P.D.1    Sham, R.L.2    Raubertas, R.F.3
  • 28
    • 22544455045 scopus 로고    scopus 로고
    • Use of community genetic screening to prevent HFE-associated hereditary haemochromatosis
    • Delatycki MB, Allen KJ, Nisselle AE, et al. Use of community genetic screening to prevent HFE-associated hereditary haemochromatosis. Lancet 2005;366:314-6.
    • (2005) Lancet , vol.366 , pp. 314-316
    • Delatycki, M.B.1    Allen, K.J.2    Nisselle, A.E.3
  • 29
    • 33746830877 scopus 로고    scopus 로고
    • Screening for hereditary hemochromatosis: A systematic review for the U.S. Preventive Services Task Force
    • Whitlock EP, Garlitz BA, Harris EL, Beil TL, Smith PR. Screening for hereditary hemochromatosis: A systematic review for the U.S. Preventive Services Task Force. Ann Intern Med 2006;145:209-23.
    • (2006) Ann Intern Med , vol.145 , pp. 209-223
    • Whitlock, E.P.1    Garlitz, B.A.2    Harris, E.L.3    Beil, T.L.4    Smith, P.R.5
  • 30
    • 0038542811 scopus 로고    scopus 로고
    • Clinical consequences of iron overload in hemochromatosis homozygotes
    • Ajioka RS, Kushner JP. Clinical consequences of iron overload in hemochromatosis homozygotes. Blood 2003;101:3351-3.
    • (2003) Blood , vol.101 , pp. 3351-3353
    • Ajioka, R.S.1    Kushner, J.P.2
  • 31
    • 42149087107 scopus 로고    scopus 로고
    • The biochemical and clinical penetrance of individuals diagnosed with genetic haemochromatosis by predictive genetic testing
    • Watkins S, Thorburn D, Joshi N, et al. The biochemical and clinical penetrance of individuals diagnosed with genetic haemochromatosis by predictive genetic testing. Eur J Gastroenterol Hepatol 2008;20:379-83.
    • (2008) Eur J Gastroenterol Hepatol , vol.20 , pp. 379-383
    • Watkins, S.1    Thorburn, D.2    Joshi, N.3
  • 32
    • 36349010904 scopus 로고    scopus 로고
    • Hemochromatosis genotypes and risk of 31 disease endpoints: Meta-analyses including 66,000 cases and 226,000 controls
    • Ellervik C, Birgens H, Tybjaerg-Hansen A, Nordestgaard BG. Hemochromatosis genotypes and risk of 31 disease endpoints: Meta-analyses including 66,000 cases and 226,000 controls. Hepatology 2007;46:1071-80.
    • (2007) Hepatology , vol.46 , pp. 1071-1080
    • Ellervik, C.1    Birgens, H.2    Tybjaerg-Hansen, A.3    Nordestgaard, B.G.4
  • 33
    • 0003106681 scopus 로고
    • Determination of iron status In: Brock JH
    • Halliday JW, Pippard MJ, Powell LW, eds, Philadelphia: WB Saunders
    • Worwood M. Determination of iron status In: Brock JH, Halliday JW, Pippard MJ, Powell LW, eds. Iron Metabolism in Health and Disease. Philadelphia: WB Saunders, 1994:449-76.
    • (1994) Iron Metabolism in Health and Disease , pp. 449-476
    • Worwood, M.1
  • 35
    • 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
  • 36
    • 0035460787 scopus 로고    scopus 로고
    • HFE mutations in African-American women with non-insul-independent diabetes mellitus
    • Acton RT, Barton JC, Bell DS, Go RC, Roseman JM. HFE mutations in African-American women with non-insul-independent diabetes mellitus. Ethn Dis 2001;11:578-84.
    • (2001) Ethn Dis , vol.11 , pp. 578-584
    • Acton, R.T.1    Barton, J.C.2    Bell, D.S.3    Go, R.C.4    Roseman, J.M.5
  • 37
    • 33845298021 scopus 로고    scopus 로고
    • Relationships of serum ferritin, transferrin saturation, and HFE mutations and self-reported diabetes in the Hemochromatosis and Iron Overload Screening (HEIRS) study
    • Acton RT, Barton JC, Passmore LV, et al. Relationships of serum ferritin, transferrin saturation, and HFE mutations and self-reported diabetes in the Hemochromatosis and Iron Overload Screening (HEIRS) study. Diabetes Care 2006;29:2084-9.
    • (2006) Diabetes Care , vol.29 , pp. 2084-2089
    • Acton, R.T.1    Barton, J.C.2    Passmore, L.V.3
  • 38
    • 0034709699 scopus 로고    scopus 로고
    • Role of C282Y mutation in haemochromatosis gene in development of type 2 diabetes in healthy men: Prospective cohort study
    • Salonen JT, Tuomainen TP, Kontula K. Role of C282Y mutation in haemochromatosis gene in development of type 2 diabetes in healthy men: Prospective cohort study. BMJ 2000;320:1706-7.
    • (2000) BMJ , vol.320 , pp. 1706-1707
    • Salonen, J.T.1    Tuomainen, T.P.2    Kontula, K.3
  • 39
    • 0031941121 scopus 로고    scopus 로고
    • Genotypic/phenotypic correlations in genetic hemochromatosis: Evolution of diagnostic criteria
    • Adams PC, Chakrabarti S. Genotypic/phenotypic correlations in genetic hemochromatosis: evolution of diagnostic criteria. Gastroenterology 1998;114:319-23.
    • (1998) Gastroenterology , vol.114 , pp. 319-323
    • Adams, P.C.1    Chakrabarti, S.2
  • 40
    • 32644445055 scopus 로고    scopus 로고
    • Screening for hemochromatosis in asymptomatic subjects with or without a family history
    • Powell LW, Dixon JL, Ramm GA, et al. Screening for hemochromatosis in asymptomatic subjects with or without a family history. Arch Intern Med 2006;166:294-301.
    • (2006) Arch Intern Med , vol.166 , pp. 294-301
    • Powell, L.W.1    Dixon, J.L.2    Ramm, G.A.3
  • 41
    • 0025877002 scopus 로고
    • Clinical presentation of hemochromatosis: A changing scene
    • Adams PC, Kertesz AE, Valberg LS. Clinical presentation of hemochromatosis: A changing scene. Am J Med 1991;90:445-9.
    • (1991) Am J Med , vol.90 , pp. 445-449
    • Adams, P.C.1    Kertesz, A.E.2    Valberg, L.S.3
  • 42
    • 0031030733 scopus 로고    scopus 로고
    • The relationship between iron overload, clinical symptoms, and age in 410 patients with genetic hemochromatosis
    • 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.
    • (1997) Hepatology , vol.25 , pp. 162-166
    • Adams, P.C.1    Deugnier, Y.2    Moirand, R.3    Brissot, P.4
  • 43
    • 33747042226 scopus 로고    scopus 로고
    • Reversibility of hepatic fibrosis in treated genetic hemochromatosis: A study of 36 cases
    • Falize L, Guillygomarc'h A, Perrin M, et al. Reversibility of hepatic fibrosis in treated genetic hemochromatosis: a study of 36 cases. Hepatobogy 2006;44:472-7.
    • (2006) Hepatobogy , vol.44 , pp. 472-477
    • Falize, L.1    Guillygomarc'h, A.2    Perrin, M.3
  • 44
    • 34248560925 scopus 로고    scopus 로고
    • Prevalence of liver fibrosis and cirrhosis in screening-detected C282Y homozygous subjects
    • Asberg A, Hveem K, Halvorsen TB, Smethurst HB. Prevalence of liver fibrosis and cirrhosis in screening-detected C282Y homozygous subjects. Scand J Gastroenterol 2007;42:782-3.
    • (2007) Scand J Gastroenterol , vol.42 , pp. 782-783
    • Asberg, A.1    Hveem, K.2    Halvorsen, T.B.3    Smethurst, H.B.4
  • 45
    • 33744921460 scopus 로고    scopus 로고
    • Liver diseases in the hemochromatosis and iron overload screening study
    • Adams PC, Passmore L, Chakrabarti S, et al. Liver diseases in the hemochromatosis and iron overload screening study. Clin Gastroenterol Hepatol 2006;4:918-23.
    • (2006) Clin Gastroenterol Hepatol , vol.4 , pp. 918-923
    • Adams, P.C.1    Passmore, L.2    Chakrabarti, S.3
  • 46
    • 22544441589 scopus 로고    scopus 로고
    • Screening for haemochromatosis - producing or preventing illness?
    • Adams PC. Screening for haemochromatosis - producing or preventing illness? Lancet 2005;366:269-71.
    • (2005) Lancet , vol.366 , pp. 269-271
    • Adams, P.C.1
  • 47
    • 1642494711 scopus 로고    scopus 로고
    • Morrison ED, Brandhagen DJ, Phatak PD, et al. Serum ferritin level predicts advanced hepatic fibrosis among US patients with phenotypic hemochromatosis. Ann Intern Med 2003;138:627-33. [Erratum in Ann Intern Med 2003;139:235].
    • Morrison ED, Brandhagen DJ, Phatak PD, et al. Serum ferritin level predicts advanced hepatic fibrosis among US patients with phenotypic hemochromatosis. Ann Intern Med 2003;138:627-33. [Erratum in Ann Intern Med 2003;139:235].
  • 49
    • 0027970972 scopus 로고
    • The morbidity of hemochromatosis among clinically unselected homozygotes: Preliminary report
    • Edwards CQ, Griffen LM, Kushner JP. The morbidity of hemochromatosis among clinically unselected homozygotes: Preliminary report. Adv Exp Med Biol 1994;356:303-8.
    • (1994) Adv Exp Med Biol , vol.356 , pp. 303-308
    • Edwards, C.Q.1    Griffen, L.M.2    Kushner, J.P.3
  • 50
    • 25444467719 scopus 로고    scopus 로고
    • Screening for hereditary hemochromatosis: A clinical practice guideline from the American College of Physicians
    • Qaseem A, Aronson M, Fitterman N, Snow V, Weiss KB, Owens DK. Screening for hereditary hemochromatosis: A clinical practice guideline from the American College of Physicians. Ann Intern Med 2005;143:517-21.
    • (2005) Ann Intern Med , vol.143 , pp. 517-521
    • Qaseem, A.1    Aronson, M.2    Fitterman, N.3    Snow, V.4    Weiss, K.B.5    Owens, D.K.6
  • 52
    • 1442282237 scopus 로고    scopus 로고
    • Evolution of untreated hereditary hemochromatosis in the Busselton population: A 17-year study
    • Olynyk JK, Hagan SE, Cullen DJ, Beilby J, Whittall DE. Evolution of untreated hereditary hemochromatosis in the Busselton population: A 17-year study. Mayo Clin Proc 2004;79:309-13.
    • (2004) Mayo Clin Proc , vol.79 , pp. 309-313
    • Olynyk, J.K.1    Hagan, S.E.2    Cullen, D.J.3    Beilby, J.4    Whittall, D.E.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.