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Volumn 44, Issue 2, 2012, Pages 148-152

Screening for hereditary haemochromatosis

Author keywords

C282Y mutation; Haemochromatosis; Hereditary; Screening

Indexed keywords


EID: 84858314194     PISSN: 00313025     EISSN: 14653931     Source Type: Journal    
DOI: 10.1097/PAT.0b013e32834e8453     Document Type: Article
Times cited : (19)

References (52)
  • 1
    • 51549106718 scopus 로고    scopus 로고
    • Hereditary hemochromatosis in the post-HFE era
    • Olynyk JK, Trinder D, Ramm GA, et al. Hereditary hemochromatosis in the post-HFE era. Hepatology 2008; 48: 991-1001.
    • (2008) Hepatology , vol.48 , pp. 991-1001
    • Olynyk, J.K.1    Trinder, D.2    Ramm, G.A.3
  • 4
    • 0029985519 scopus 로고    scopus 로고
    • A 4.5-megabase YAC contig and physical map over the hemochromatosis gene region
    • DOI 10.1006/geno.1996.0178
    • Burt MJ, Smit DJ, Pyper WR, et al. A 4.5-megabase YAC contig and physical map over the hemochromatosis gene region. Genomics 1996; 33: 153-8. (Pubitemid 26132553)
    • (1996) Genomics , vol.33 , Issue.2 , pp. 153-158
    • Burt, M.J.1    Smit, D.J.2    Pyper, W.R.3    Powell, L.W.4    Jazwinska, E.C.5
  • 6
    • 33644802260 scopus 로고    scopus 로고
    • The effect of the metabolic syndrome, hepatic steatosis and steatohepatitis on liver fibrosis in hereditary hemochromatosis
    • DOI 10.1111/j.1478-3231.2005.01238.x
    • Adams LA, Angulo P, Abraham SC, et al. The effect of the metabolic syndrome, hepatic steatosis and steatohepatitis on liver fibrosis in hereditary hemochromatosis. Liver Int 2006; 26: 298-304 (Pubitemid 43349319)
    • (2006) Liver International , vol.26 , Issue.3 , pp. 298-304
    • Adams, L.A.1    Angulo, P.2    Abraham, S.C.3    Torgerson, H.4    Brandhagen, D.5
  • 8
    • 0042097356 scopus 로고    scopus 로고
    • Juvenile hemochromatosis in the southeastern United States: A report of seven cases in two kinships
    • Barton JC, Rao SV, Pereira NM, et al. Juvenile hemochromatosis in the southeastern United States: a report of seven cases in two kinships. Blood Cells Mol Dis 2002; 29: 104-15.
    • (2002) Blood Cells Mol Dis , vol.29 , pp. 104-115
    • Barton, J.C.1    Rao, S.V.2    Pereira, N.M.3
  • 9
  • 11
    • 77950865630 scopus 로고    scopus 로고
    • Phenotypic expression of hereditary hemochromatosis: What have we learned from the population studies?
    • Gan EK, Ayonrinde OT, Trinder D, et al. Phenotypic expression of hereditary hemochromatosis: what have we learned from the population studies? Curr Gastroenterol Rep 2010; 12: 7-12.
    • (2010) Curr Gastroenterol Rep , vol.12 , pp. 7-12
    • Gan, E.K.1    Ayonrinde, O.T.2    Trinder, D.3
  • 12
    • 80052652791 scopus 로고    scopus 로고
    • Natural history and management of HFE Hemochromatosis
    • Gan EK, Powell LW, Olynyk JK. Natural history and management of HFE Hemochromatosis. Semin Liver Dis 2011; 31: 293-301.
    • (2011) Semin Liver Dis , vol.31 , pp. 293-301
    • Gan, E.K.1    Powell, L.W.2    Olynyk, J.K.3
  • 13
    • 1442282237 scopus 로고    scopus 로고
    • Evolution of Untreated Hereditary Hemochromatosis in the Busselton Population: A 17-Year Study
    • Olynyk JK, Hagan SE, Cullen DJ, et al. Evolution of untreated hereditary hemochromatosis in the Busselton population: A 17-year study. Mayo Clin Proc 2004; 79: 309-13. (Pubitemid 38269232)
    • (2004) Mayo Clinic Proceedings , vol.79 , Issue.3 , pp. 309-313
    • Olynyk, J.K.1    Hagan, S.E.2    Cullen, D.J.3    Beilby, J.4    Whittall, D.E.5
  • 14
    • 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, et al. 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
  • 15
    • 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, et al. Screening for hereditary hemochromatosis: a systematic review for the US Preventive Services Task Force. Ann Intern Med 2006; 145: 209-23. (Pubitemid 46780566)
    • (2006) Annals of Internal Medicine , vol.145 , Issue.3 , pp. 209-223
    • Whitlock, E.P.1    Garlitz, B.A.2    Harris, E.L.3    Beil, T.L.4    Smith, P.R.5
  • 16
    • 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
  • 17
    • 67651146945 scopus 로고    scopus 로고
    • HFE C282Y/H63D compound heterozygotes are at low risk of hemochromatosis-related morbidity
    • Gurrin LC, Bertalli NA, Dalton GW, et al. HFE C282Y/H63D compound heterozygotes are at low risk of hemochromatosis-related morbidity. Hepatology 2009; 50: 94-101.
    • (2009) Hepatology , vol.50 , pp. 94-101
    • Gurrin, L.C.1    Bertalli, N.A.2    Dalton, G.W.3
  • 18
    • 57249103568 scopus 로고    scopus 로고
    • The natural history of serum iron indices for HFE C282Y homozygosity associated with hereditary hemochromatosis
    • Gurrin LC, Osborne NJ, Constantine CC, et al. The natural history of serum iron indices for HFE C282Y homozygosity associated with hereditary hemochromatosis. Gastroenterology 2008; 135: 1945-52.
    • (2008) Gastroenterology , vol.135 , pp. 1945-1952
    • Gurrin, L.C.1    Osborne, N.J.2    Constantine, C.C.3
  • 19
    • 53549134689 scopus 로고    scopus 로고
    • Population genetic screening for hereditary haemochromatosis: Are we a step closer?
    • Allen KJ. Population genetic screening for hereditary haemochromatosis: are we a step closer? Med J Aust 2008; 189: 300-1.
    • (2008) Med J Aust , vol.189 , pp. 300-301
    • Allen, K.J.1
  • 20
    • 70149087337 scopus 로고    scopus 로고
    • Genetics of hereditary hemo-chromatosis: A clinical perspective
    • Gan EK, Trinder D, Ayonrinde OT, et al. Genetics of hereditary hemo-chromatosis: a clinical perspective. Expert Rev Endocrinol Metab 2009; 4: 225-39.
    • (2009) Expert Rev Endocrinol Metab , vol.4 , pp. 225-239
    • Gan, E.K.1    Trinder, D.2    Ayonrinde, O.T.3
  • 21
    • 60949110242 scopus 로고    scopus 로고
    • Predicting iron overload in hyperferritinemia
    • Olynyk JK, Gan E, Tan T. Predicting iron overload in hyperferritinemia. Clin Gastroenterol H 2009; 7: 359-62.
    • (2009) Clin Gastroenterol H , vol.7 , pp. 359-362
    • Olynyk, J.K.1    Gan, E.2    Tan, T.3
  • 22
    • 79251526560 scopus 로고    scopus 로고
    • Serum iron markers are inadequate for guiding iron repletion in chronic kidney disease
    • Ferrari P, Kulkarni H, Dheda S, et al. Serum iron markers are inadequate for guiding iron repletion in chronic kidney disease. Clin J Am Soc Nephrol 2011; 6: 77-83.
    • (2011) Clin J Am Soc Nephrol , vol.6 , pp. 77-83
    • Ferrari, P.1    Kulkarni, H.2    Dheda, S.3
  • 24
    • 77956625820 scopus 로고    scopus 로고
    • HFE C282Tyr homozygotes with serum ferritin concentrations below 1000 mg/L are at low risk of hemo-chromatosis
    • Allen KJ, Bertali NA, Osborne NJ, et al. HFE C282Tyr homozygotes with serum ferritin concentrations below 1000 mg/L are at low risk of hemo-chromatosis. Hepatology 2010; 52: 925-33.
    • (2010) Hepatology , vol.52 , pp. 925-933
    • Allen, K.J.1    Bertali, N.A.2    Osborne, N.J.3
  • 25
    • 78650788709 scopus 로고    scopus 로고
    • Hereditary hemochromatosis is characterized by a clinically definable arthropathy that correlates with iron load
    • Carroll GJ, Breidahl WH, Bulsara MK, et al. Hereditary hemochromatosis is characterized by a clinically definable arthropathy that correlates with iron load. Arthritis Rheum 2011; 63: 286-94.
    • (2011) Arthritis Rheum , vol.63 , pp. 286-294
    • Carroll, G.J.1    Breidahl, W.H.2    Bulsara, M.K.3
  • 28
    • 16244374915 scopus 로고    scopus 로고
    • Is HFE involved in increased hepcidin expression and hypoferremia in inflammation and anemia of chronic disease?
    • DOI 10.1002/hep.20652
    • Milward EA, Trinder D, Wilcox CE, et al. Is HFE involved in increased hepcidin expression and hypoferremia in inflammation and anemia of chronic disease? Hepatology 2005; 41: 936-8. (Pubitemid 40462956)
    • (2005) Hepatology , vol.41 , Issue.4 , pp. 936-938
    • Milward, E.A.1    Trinder, D.2    Wilcox, C.E.J.3    Britton, R.S.4    Ramm, G.A.5    Olynyk, J.K.6
  • 29
    • 66149146661 scopus 로고    scopus 로고
    • Haemochromatosis HFE gene polymorphisms as potential modifiers of hereditary nonpolyposis colorectal cancer risk and onset age
    • Shi Z, Johnstone D, Talseth B, et al. Haemochromatosis HFE gene polymorphisms as potential modifiers of hereditary nonpolyposis colorectal cancer risk and onset age. Int J Cancer 2009; 125: 78-83.
    • (2009) Int J Cancer , vol.125 , pp. 78-83
    • Shi, Z.1    Johnstone, D.2    Talseth, B.3
  • 30
    • 77950620367 scopus 로고    scopus 로고
    • HFE C282Y homozygotes are at increased risk of breast and colorectal cancer
    • Osborne NJ, Gurrin LC, Allen KJ, et al. HFE C282Y homozygotes are at increased risk of breast and colorectal cancer. Hepatology 2010; 51: 1311-8.
    • (2010) Hepatology , vol.51 , pp. 1311-1318
    • Osborne, N.J.1    Gurrin, L.C.2    Allen, K.J.3
  • 31
    • 33645032772 scopus 로고    scopus 로고
    • HFE H63D mutation frequency shows an increase in Turkish women with breast cancer
    • Gunel-Ozcan A, Alyilmaz-Bekmez S, Guler EN, et al. HFE H63D mutation frequency shows an increase in Turkish women with breast cancer. BMC Cancer 2006; 6: 37.
    • (2006) BMC Cancer , vol.6 , pp. 37
    • Gunel-Ozcan, A.1    Alyilmaz-Bekmez, S.2    Guler, E.N.3
  • 34
    • 0014345394 scopus 로고
    • Principles and practice of mass screening for disease. (Spanish)
    • Wilson JM, Jungner YG. Principles and practice of mass screening for disease. (Spanish). Bol Oficina Sanit Panam 1968; 65: 281-393.
    • (1968) Bol Oficina Sanit Panam , vol.65 , pp. 281-393
    • Wilson, J.M.1    Jungner, Y.G.2
  • 35
    • 0001480079 scopus 로고
    • The effect of repeated phlebotomies in hemo-chromatosis-Report of 3 cases
    • Davis W, Arrowsmith W. The effect of repeated phlebotomies in hemo-chromatosis-Report of 3 cases. J Lab Clin Med 1952; 39: 526.
    • (1952) J Lab Clin Med , vol.39 , pp. 526
    • Davis, W.1    Arrowsmith, W.2
  • 38
    • 36549053552 scopus 로고    scopus 로고
    • Haemochromatosis
    • DOI 10.1016/S0140-6736(07)61782-6, PII S0140673607617826
    • Adams PC, Barton JC. Haemochromatosis. Lancet 2007; 370: 1855-60. (Pubitemid 350180034)
    • (2007) Lancet , vol.370 , Issue.9602 , pp. 1855-1860
    • Adams, P.C.1    Barton, J.C.2
  • 39
    • 77953120762 scopus 로고    scopus 로고
    • EASL clinical practice guidelines for HFE hemochromatosis
    • European Association for the Study of the Liver
    • European Association for the Study of the Liver. EASL clinical practice guidelines for HFE hemochromatosis. J Hepatol 2010; 53:3-22.
    • (2010) J Hepatol , vol.53 , pp. 3-22
  • 40
    • 0035038147 scopus 로고    scopus 로고
    • Diagnosis and management of hemochromatosis
    • DOI 10.1053/jhep.2001.24783
    • Tavill AS. Diagnosis and management of hemochromatosis. Hepatology 2001; 33: 1321-8. (Pubitemid 32378233)
    • (2001) Hepatology , vol.33 , Issue.5 , pp. 1321-1328
    • Tavill, A.S.1
  • 41
    • 0033792885 scopus 로고    scopus 로고
    • Iron deficiency due to excessive therapeutic phlebotomy in hemochromatosis
    • Barton JC, Bottomley SS. Iron deficiency due to excessive therapeutic phlebotomy in hemochromatosis. Am J Hematol 2000; 65: 223-6.
    • (2000) Am J Hematol , vol.65 , pp. 223-226
    • Barton, J.C.1    Bottomley, S.S.2
  • 43
    • 0009851482 scopus 로고
    • The treatment of Hemochromatosis by massive venesection
    • Davis W, Arrowsmith W. The treatment of Hemochromatosis by massive venesection. Ann Intern Med 1953; 39: 723-34.
    • (1953) Ann Intern Med , vol.39 , pp. 723-734
    • Davis, W.1    Arrowsmith, W.2
  • 44
    • 0022368621 scopus 로고
    • Survival and causes of death in cirrhotic and in noncirrhotic patients with primary hemochromatosis
    • Niederau C, Fischer R, Sonnenberg A, et al. Survival and causes of death in cirrhotic and in noncirrhotic patients with primary hemochromatosis. N Engl J Med 1985; 313: 1256-62. (Pubitemid 16217048)
    • (1985) New England Journal of Medicine , vol.313 , Issue.20 , pp. 1256-1262
    • Niederau, C.1    Fischer, R.2    Sonnenberg, A.3
  • 45
    • 0025913745 scopus 로고
    • Long-term survival analysis in hereditary hemochromatosis
    • Adams PC, Speechley M, Kertesz AE. Long-term survival analysis in hereditary hemochromatosis. Gastroenterology 1991; 101: 368-72.
    • (1991) Gastroenterology , vol.101 , pp. 368-372
    • Adams, P.C.1    Speechley, M.2    Kertesz, A.E.3
  • 46
    • 0017142698 scopus 로고
    • Long-term results of venesection therapy in idiopathic hemochromatosis
    • Bomford A, Williams R. Long-term results of venesection therapy in idiopathic hemochromatosis. Q J Med 1976; 45: 611-23.
    • (1976) Q J Med , vol.45 , pp. 611-623
    • Bomford, A.1    Williams, R.2
  • 47
    • 49849106357 scopus 로고    scopus 로고
    • Hereditary hemochromatosis: Time for targeted screening
    • Phatak PD, Bonkovsky HL, Kowdley KV. Hereditary hemochromatosis: time for targeted screening. Ann Intern Med 2008; 149: 270-2.
    • (2008) Ann Intern Med , vol.149 , pp. 270-272
    • Phatak, P.D.1    Bonkovsky, H.L.2    Kowdley, K.V.3
  • 48
    • 33845545966 scopus 로고    scopus 로고
    • Hereditary hemochromatosis screening: Effect of mutation penetrance and prevalence on cost-effectiveness of testing algorithms
    • DOI 10.1111/j.1399-0004.2006.00727.x
    • Gagne G, Reinharz D, Laflamme N, et al. Hereditary hemochromatosis screening: effect of mutation penetrance and prevalence on cost-effectiveness of testing algorithms. Clin Genet 2007; 71: 46-58. (Pubitemid 44921621)
    • (2007) Clinical Genetics , vol.71 , Issue.1 , pp. 46-58
    • Gagne, G.1    Reinharz, D.2    Laflamme, N.3    Adams, P.C.4    Rousseau, F.5
  • 49
    • 64549148979 scopus 로고    scopus 로고
    • The cost-effectiveness of screening for hereditary hemo-chromatosis in Germany: A remodeling study
    • Rogowski WH. The cost-effectiveness of screening for hereditary hemo-chromatosis in Germany: a remodeling study. Med Decis Making 2009; 29: 224-38.
    • (2009) Med Decis Making , vol.29 , pp. 224-238
    • Rogowski, W.H.1
  • 50
    • 0034928709 scopus 로고    scopus 로고
    • Estimating the efficacy and efficiency of cascade genetic screening
    • DOI 10.1086/321973
    • Krawczak M, Cooper DN, Schmidtke J. Estimating the efficacy and efficiency of cascade genetic screening. Am J Hum Genet 2001; 69: 361-70. (Pubitemid 32695208)
    • (2001) American Journal of Human Genetics , vol.69 , Issue.2 , pp. 361-370
    • Krawczak, M.1    Cooper, D.N.2    Schmidtke, J.3
  • 51
    • 1442331955 scopus 로고    scopus 로고
    • Screening for hemochromatosis: Patients with liver disease, families, and populations
    • Galhenage SP, Viiala CH, Olynyk JK. Screening for hemochromatosis: patients with liver disease, families, and populations. Curr Gastroenterol Rep 2004; 6: 44-51. (Pubitemid 39359584)
    • (2004) Current Gastroenterology Reports , vol.6 , Issue.1 , pp. 44-51
    • Galhenage, S.P.1    Viiala, C.H.2    Olynyk, J.K.3
  • 52
    • 56149086853 scopus 로고    scopus 로고
    • Prevalence, characteristics, and prognostic significance of HFE gene mutations in type 2 diabetes: The Fremantle Diabetes Study
    • Davis TM, Beilby J, Davis WA, et al. Prevalence, characteristics, and prognostic significance of HFE gene mutations in type 2 diabetes: the Fremantle Diabetes Study. Diabetes Care 2008; 31: 1795-801
    • (2008) Diabetes Care , vol.31 , pp. 1795-1801
    • Davis, T.M.1    Beilby, J.2    Davis, W.A.3


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