메뉴 건너뛰기




Volumn 19, Issue 2, 2004, Pages 101-108

Is genetic screening for hemochromatosis worthwhile?

Author keywords

Genetic epidemiology; Hemochromatosis; HFE; Penetrance; Screening

Indexed keywords

CAUCASIAN; DIAGNOSTIC VALUE; DISEASE CLASSIFICATION; EARLY DIAGNOSIS; GENE; GENE MUTATION; GENETIC EPIDEMIOLOGY; GENETIC SCREENING; GENOTYPE; HEMOCHROMATOSIS; HFE GENE; HIGH RISK POPULATION; HOMOZYGOSITY; HUMAN; IRON BLOOD LEVEL; PHENOTYPE; PHLEBOTOMY; RECESSIVE INHERITANCE; REVIEW; SCREENING TEST; SOCIAL PSYCHOLOGY;

EID: 1642380179     PISSN: 03932990     EISSN: None     Source Type: Journal    
DOI: 10.1023/B:EJEP.0000017664.96394.b9     Document Type: Review
Times cited : (20)

References (74)
  • 1
    • 0033848697 scopus 로고    scopus 로고
    • EASL International Consensus Conference on Haemochromatosis
    • Adams P, Brissot P, Powell LW. EASL International Consensus Conference on Haemochromatosis. J Hepatol 2000; 33: 485-504.
    • (2000) J Hepatol , vol.33 , pp. 485-504
    • Adams, P.1    Brissot, P.2    Powell, L.W.3
  • 2
    • 0000580031 scopus 로고    scopus 로고
    • Hemochromatosis and other iron storage disorders
    • Schiff ER, Sorrel MF, Maddrey WC (eds). Philadelphia: Lippincott-Raven
    • Powell LW, Leggett BA, Crawford DHG. Hemochromatosis and other iron storage disorders. In: Schiff ER, Sorrel MF, Maddrey WC (eds), Schiff's diseases of the liver. Philadelphia: Lippincott-Raven, 1999: 1107-1130.
    • (1999) Schiff's Diseases of the Liver , pp. 1107-1130
    • Powell, L.W.1    Leggett, B.A.2    Crawford, D.H.G.3
  • 5
    • 0029051968 scopus 로고
    • Hemochromatosis screening in asymptomatic ambulatory men 30 years of age and older
    • Baer DM, Simons JL, Staples RL, Rumore GJ, Morton CJ. Hemochromatosis screening in asymptomatic ambulatory men 30 years of age and older. Am J Med 1995; 98: 464-468.
    • (1995) Am J Med , vol.98 , pp. 464-468
    • Baer, D.M.1    Simons, J.L.2    Staples, R.L.3    Rumore, G.J.4    Morton, C.J.5
  • 6
    • 0031835884 scopus 로고    scopus 로고
    • HFE mutations in patients with hereditary haemochromatosis in Sweden
    • Cardoso EM, Stal P, Hagen K, et al. HFE mutations in patients with hereditary haemochromatosis in Sweden. J Intern Med 1998; 243: 203-208.
    • (1998) J Intern Med , vol.243 , pp. 203-208
    • Cardoso, E.M.1    Stal, P.2    Hagen, K.3
  • 7
    • 0001019873 scopus 로고
    • Primary iron overload
    • Brock J, Halliday J, Pippard M, Powell L (eds). London: Saunders
    • Powell L, Jazwinska E, Halliday J. Primary iron overload. In: Brock J, Halliday J, Pippard M, Powell L (eds), Iron metabolism in health and disease. London: Saunders, 1994: 227-270.
    • (1994) Iron Metabolism in Health and Disease , pp. 227-270
    • Powell, L.1    Jazwinska, E.2    Halliday, J.3
  • 8
    • 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
  • 9
    • 0001257976 scopus 로고
    • Idiopathic hemochromatosis, an iron storage disease. A: Iron metabolism in hemochromatosis
    • Finch S, Finch C. Idiopathic hemochromatosis, an iron storage disease. A: Iron metabolism in hemochromatosis. Medicine 1955; 34: 381-430.
    • (1955) Medicine , vol.34 , pp. 381-430
    • Finch, S.1    Finch, C.2
  • 10
    • 39149136945 scopus 로고
    • Hepatic pathology in relatives of patients with hemochromatosis
    • Scheuer P, Williams R, Muir A. Hepatic pathology in relatives of patients with hemochromatosis. J Pathol Bacteriol 1962; 84: 53-64.
    • (1962) J Pathol Bacteriol , vol.84 , pp. 53-64
    • Scheuer, P.1    Williams, R.2    Muir, A.3
  • 11
    • 0022656390 scopus 로고
    • Value of hepatic iron measurements in early hemochromatosis and determination of the critical iron level associated with fibrosis
    • Bassett ML, Halliday JW, Powell LW. Value of hepatic iron measurements in early hemochromatosis and determination of the critical iron level associated with fibrosis. Hepatology 1986; 6: 24-29.
    • (1986) Hepatology , vol.6 , pp. 24-29
    • Bassett, M.L.1    Halliday, J.W.2    Powell, L.W.3
  • 12
    • 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
  • 13
    • 0036264369 scopus 로고    scopus 로고
    • Diagnosis of hemochromatosis
    • Powell LW. Diagnosis of hemochromatosis. Semin Gastrointest Dis 2002; 13: 80-88.
    • (2002) Semin Gastrointest Dis , vol.13 , pp. 80-88
    • Powell, L.W.1
  • 14
    • 0004258857 scopus 로고
    • London: Oxford University Press
    • Sheldon J. Hemochromatosis. London: Oxford University Press; 1935.
    • (1935) Hemochromatosis
    • Sheldon, J.1
  • 15
    • 0014487501 scopus 로고
    • Hemochromatose idiopathique. Maladie recessive autosomique
    • Saddi R, Feingold J. Hemochromatose idiopathique. Maladie recessive autosomique. Rev Fr Etud Clin Biol 1969; 14: 238-251.
    • (1969) Rev Fr Etud Clin Biol , vol.14 , pp. 238-251
    • Saddi, R.1    Feingold, J.2
  • 16
    • 0016240373 scopus 로고
    • Idiopathic haemochromatosis: An autosomal recessive disease
    • Saddi R, Feingold J. Idiopathic haemochromatosis: An autosomal recessive disease. Clin Genet 1974; 5: 234-241.
    • (1974) Clin Genet , vol.5 , pp. 234-241
    • Saddi, R.1    Feingold, J.2
  • 18
    • 0018780370 scopus 로고
    • Heredite recessive de l'hemochromatose idiopathique: Deux observations de transmission pseudo-dominante reconnue comme recessive par l'etude de la surcharge en fer et des genotypes HLA dans les familles
    • Simon M, Hespel JP, Fauchet R, et al. Heredite recessive de l'hemochromatose idiopathique: deux observations de transmission pseudo-dominante reconnue comme recessive par l'etude de la surcharge en fer et des genotypes HLA dans les familles. Nouv Presse Med 1979; 8: 421-424.
    • (1979) Nouv Presse Med , vol.8 , pp. 421-424
    • Simon, M.1    Hespel, J.P.2    Fauchet, R.3
  • 20
    • 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
    • Barton JC, Shih WW, Sawada-Hirai R, 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 Dis 1997; 23: 135-145.
    • (1997) Blood Cells Mol Dis , vol.23 , pp. 135-145
    • Barton, J.C.1    Shih, W.W.2    Sawada-Hirai, R.3
  • 21
    • 0033066062 scopus 로고    scopus 로고
    • A genotypic study of 217 unrelated probands diagnosed as 'genetic hemochromatosis' on 'classical' phenotypic criteria
    • Brissot P, Moirand R, Jouanolle AM, et al. A genotypic study of 217 unrelated probands diagnosed as 'genetic hemochromatosis' on 'classical' phenotypic criteria. J Hepatol 1999; 30: 588-593.
    • (1999) J Hepatol , vol.30 , pp. 588-593
    • Brissot, P.1    Moirand, R.2    Jouanolle, A.M.3
  • 22
    • 0032927124 scopus 로고    scopus 로고
    • Phenotypic expression of HFE mutations: A French study of 1110 unrelated iron-overloaded patients and relatives
    • Moirand R, Jouanolle AM, Brissot P, Le Gall JY, David V, Deugnier Y. Phenotypic expression of HFE mutations: A French study of 1110 unrelated iron-overloaded patients and relatives. Gastroenterology 1999; 116: 372-377.
    • (1999) Gastroenterology , vol.116 , pp. 372-377
    • Moirand, R.1    Jouanolle, A.M.2    Brissot, P.3    Le Gall, J.Y.4    David, V.5    Deugnier, Y.6
  • 23
    • 0033927849 scopus 로고    scopus 로고
    • Effects of HFE C282Y and H63D polymorphisms and polygenic background on iron stores in a large community sample of twins
    • Whitfield JB, Cullen LM, Jazwinska EC, et al. Effects of HFE C282Y and H63D polymorphisms and polygenic background on iron stores in a large community sample of twins. Am J Hum Genet 2000; 66: 1246-1258.
    • (2000) Am J Hum Genet , vol.66 , pp. 1246-1258
    • Whitfield, J.B.1    Cullen, L.M.2    Jazwinska, E.C.3
  • 24
    • 0030221927 scopus 로고    scopus 로고
    • Mutation analysis in hereditary hemochromatosis
    • Beutler E, Gelbart T, West C, et al. Mutation analysis in hereditary hemochromatosis. Blood Cells Mol Dis 1996; 22: 187-194.
    • (1996) Blood Cells Mol Dis , vol.22 , pp. 187-194
    • Beutler, E.1    Gelbart, T.2    West, C.3
  • 25
    • 0031047769 scopus 로고    scopus 로고
    • Mutations in the MHC class I-like candidate gene for hemochromatosis in French patients
    • Borot N, Roth M, Malfroy L, et al. Mutations in the MHC class I-like candidate gene for hemochromatosis in French patients. Immunogenetics 1997; 45: 320-324.
    • (1997) Immunogenetics , vol.45 , pp. 320-324
    • Borot, N.1    Roth, M.2    Malfroy, L.3
  • 26
    • 0031024211 scopus 로고    scopus 로고
    • Hemochromatosis and 'HLA-H': Definite!
    • Jazwinska EC, Powell LW. Hemochromatosis and 'HLA-H': Definite! Hepatology 1997; 25: 495-496.
    • (1997) Hepatology , vol.25 , pp. 495-496
    • Jazwinska, E.C.1    Powell, L.W.2
  • 28
    • 0031002910 scopus 로고    scopus 로고
    • Immunohistochemistry of HLA-H, the protein defective in patients with hereditary hemochromatosis, reveals unique pattern of expression in gastrointestinal tract
    • Parkkila S, Waheed A, Britton RS, et al. Immunohistochemistry of HLA-H, the protein defective in patients with hereditary hemochromatosis, reveals unique pattern of expression in gastrointestinal tract. Proc Natl Acad Sci USA 1997; 94: 2534-2539.
    • (1997) Proc Natl Acad Sci USA , vol.94 , pp. 2534-2539
    • Parkkila, S.1    Waheed, A.2    Britton, R.S.3
  • 29
    • 0032478524 scopus 로고    scopus 로고
    • Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor
    • Lebron JA, Bennett MJ, Vaughn DE, et al. Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor. Cell 1998; 93: 111-123.
    • (1998) Cell , vol.93 , pp. 111-123
    • Lebron, J.A.1    Bennett, M.J.2    Vaughn, D.E.3
  • 31
    • 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 2001; 154: 193-206.
    • (2001) Am J Epidemiol , vol.154 , pp. 193-206
    • Hanson, E.H.1    Imperatore, G.2    Burke, W.3
  • 33
    • 0021014865 scopus 로고
    • Juvenile idiopathic haemochromatosis: A life-threatening disorder presenting as hypogonadotropic hypogonadism
    • Cazzola M, Ascari E, Barosi G, et al. Juvenile idiopathic haemochromatosis: A life-threatening disorder presenting as hypogonadotropic hypogonadism. Hum Genet 1983; 65: 149-154.
    • (1983) Hum Genet , vol.65 , pp. 149-154
    • Cazzola, M.1    Ascari, E.2    Barosi, G.3
  • 34
    • 13144259692 scopus 로고    scopus 로고
    • Juvenile and adult hemochromatosis are distinct genetic disorders
    • Camaschella C, Roetto A, Cicilano M, et al. Juvenile and adult hemochromatosis are distinct genetic disorders. Eur J Hum Genet 1997; 5: 371-375.
    • (1997) Eur J Hum Genet , vol.5 , pp. 371-375
    • Camaschella, C.1    Roetto, A.2    Cicilano, M.3
  • 35
    • 0014051104 scopus 로고
    • Idiopathic hemochromatosis in young subjects. Clinical, pathological, and chemical findings in four patients
    • Charlton RW, Abrahams C, Bothwell TH. Idiopathic hemochromatosis in young subjects. Clinical, pathological, and chemical findings in four patients. Arch Pathol 1967; 83: 132-140.
    • (1967) Arch Pathol , vol.83 , pp. 132-140
    • Charlton, R.W.1    Abrahams, C.2    Bothwell, T.H.3
  • 36
    • 0032531982 scopus 로고    scopus 로고
    • Juvenile genetic hemochromatosis is clinically and genetically distinct from the classical HLA-related disorder
    • Cazzola M, Cerani P, Rovati A, Iannone A, Claudiani G, Bergamaschi G. Juvenile genetic hemochromatosis is clinically and genetically distinct from the classical HLA-related disorder. Blood 1998; 92: 2979-2981.
    • (1998) Blood , vol.92 , pp. 2979-2981
    • Cazzola, M.1    Cerani, P.2    Rovati, A.3    Iannone, A.4    Claudiani, G.5    Bergamaschi, G.6
  • 37
    • 0031755098 scopus 로고    scopus 로고
    • Hereditary juvenile haemochromatosis: A genetically heterogeneous life-threatening iron-storage disease
    • Kelly AL, Rhodes DA, Roland JM, Schofield P, Cox TM. Hereditary juvenile haemochromatosis: A genetically heterogeneous life-threatening iron-storage disease. QJM 1998; 91: 607-618.
    • (1998) QJM , vol.91 , pp. 607-618
    • Kelly, A.L.1    Rhodes, D.A.2    Roland, J.M.3    Schofield, P.4    Cox, T.M.5
  • 38
    • 0033358675 scopus 로고    scopus 로고
    • Juvenile hemochromatosis locus maps to chromosome 1q
    • Roetto A, Totaro A, Cazzola M, et al. Juvenile hemochromatosis locus maps to chromosome 1q. Am J Hum Genet 1999; 64: 1388-1393.
    • (1999) Am J Hum Genet , vol.64 , pp. 1388-1393
    • Roetto, A.1    Totaro, A.2    Cazzola, M.3
  • 39
    • 0036401241 scopus 로고    scopus 로고
    • Genetic heterogeneity underlies juvenile hemochromatosis phenotype: Analysis of three families of northern greek origin
    • Papanikolaou G, Papaioannou M, Politou M, et al. Genetic heterogeneity underlies juvenile hemochromatosis phenotype: Analysis of three families of northern greek origin. Blood Cells Mol Dis 2002; 29: 168-173.
    • (2002) Blood Cells Mol Dis , vol.29 , pp. 168-173
    • Papanikolaou, G.1    Papaioannou, M.2    Politou, M.3
  • 40
    • 0034022636 scopus 로고    scopus 로고
    • The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22
    • Camaschella C, Roetto A, Cali A, et al. The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22. Nat Genet 2000; 25: 14-15.
    • (2000) Nat Genet , vol.25 , pp. 14-15
    • Camaschella, C.1    Roetto, A.2    Cali, A.3
  • 41
    • 0141607526 scopus 로고    scopus 로고
    • Hemochromatosis due to mutations in transferrin receptor 2
    • Roetto A, Daraio F, Alberti F, et al. Hemochromatosis due to mutations in transferrin receptor 2. Blood Cells Mol Dis 2002; 29: 465-470.
    • (2002) Blood Cells Mol Dis , vol.29 , pp. 465-470
    • Roetto, A.1    Daraio, F.2    Alberti, F.3
  • 42
    • 0033517341 scopus 로고    scopus 로고
    • Hereditary hemochromatosis in adults without pathogenic mutations in the hemochromatosis gene
    • Pietrangelo A, Montosi G, Totaro A, et al. Hereditary hemochromatosis in adults without pathogenic mutations in the hemochromatosis gene. N Engl J Med 1999; 341: 725-732.
    • (1999) N Engl J Med , vol.341 , pp. 725-732
    • Pietrangelo, A.1    Montosi, G.2    Totaro, A.3
  • 43
    • 17944380796 scopus 로고    scopus 로고
    • Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene
    • Montosi G, Donovan A, Totaro A, et al. Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene. J Clin Invest 2001; 108: 619-623.
    • (2001) J Clin Invest , vol.108 , pp. 619-623
    • Montosi, G.1    Donovan, A.2    Totaro, A.3
  • 44
    • 0034930197 scopus 로고    scopus 로고
    • A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis
    • Njajou OT, Vaessen N, Joosse M, et al. A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis. Nat Genet 2001; 28: 213-214.
    • (2001) Nat Genet , vol.28 , pp. 213-214
    • Njajou, O.T.1    Vaessen, N.2    Joosse, M.3
  • 45
    • 0037100382 scopus 로고    scopus 로고
    • Autosomal dominant reticuloendothelial iron overload associated with a 3-base pair deletion in the ferroportin I gene (SLC11A3)
    • Devalia V, Carter K, Walker AP, et al. Autosomal dominant reticuloendothelial iron overload associated with a 3-base pair deletion in the ferroportin I gene (SLC11A3). Blood 2002; 100: 695-697.
    • (2002) Blood , vol.100 , pp. 695-697
    • Devalia, V.1    Carter, K.2    Walker, A.P.3
  • 46
    • 0037100383 scopus 로고    scopus 로고
    • A valine deletion of ferroportin 1: A common mutation in hemochromastosis type 4
    • Roetto A, Merryweather-Clarke AT, Daraio F, et al. A valine deletion of ferroportin 1: A common mutation in hemochromastosis type 4. Blood 2002; 100: 733-734.
    • (2002) Blood , vol.100 , pp. 733-734
    • Roetto, A.1    Merryweather-Clarke, A.T.2    Daraio, F.3
  • 47
    • 0037100517 scopus 로고    scopus 로고
    • Novel mutation in ferroportin 1 is associated with autosomal dominant hemochromatosis
    • Wallace DF, Pedersen P, Dixon JL, et al. Novel mutation in ferroportin 1 is associated with autosomal dominant hemochromatosis. Blood 2002; 100: 692-694.
    • (2002) Blood , vol.100 , pp. 692-694
    • Wallace, D.F.1    Pedersen, P.2    Dixon, J.L.3
  • 48
    • 0037006654 scopus 로고    scopus 로고
    • Role of HFE in iron metabolism, hereditary haemochromatosis, anaemia of chronic disease, and secondary iron overload
    • Townsend A, Drakesmith H. Role of HFE in iron metabolism, hereditary haemochromatosis, anaemia of chronic disease, and secondary iron overload. Lancet 2002; 359: 786-790.
    • (2002) Lancet , vol.359 , pp. 786-790
    • Townsend, A.1    Drakesmith, H.2
  • 49
    • 0034964604 scopus 로고    scopus 로고
    • A mutation, in the iron-responsive element of H ferritin mRNA, causing autosomal dominant iron overload
    • Kato J, Fujikawa K, Kanda M, et al. A mutation, in the iron-responsive element of H ferritin mRNA, causing autosomal dominant iron overload. Am J Hum Genet 2001; 69: 191-197.
    • (2001) Am J Hum Genet , vol.69 , pp. 191-197
    • Kato, J.1    Fujikawa, K.2    Kanda, M.3
  • 50
    • 0029844694 scopus 로고    scopus 로고
    • Hereditary iron overload and African Americans
    • Baer D. Hereditary iron overload and African Americans. Am J Med 1996; 101: 5-8.
    • (1996) Am J Med , vol.101 , pp. 5-8
    • Baer, D.1
  • 51
    • 0032837356 scopus 로고    scopus 로고
    • Iron overload in urban Africans in the 1990s
    • Gangaidzo IT, Moyo VM, Saungweme T, et al. Iron overload in urban Africans in the 1990s. Gut 1999; 45: 278-283.
    • (1999) Gut , vol.45 , pp. 278-283
    • Gangaidzo, I.T.1    Moyo, V.M.2    Saungweme, T.3
  • 52
    • 0030839925 scopus 로고    scopus 로고
    • HLA-H mutations in the Ashkenazi Jewish population
    • Beutler E, Gelbart T. HLA-H mutations in the Ashkenazi Jewish population. Blood Cells Mol Dis 1997; 23: 95-98.
    • (1997) Blood Cells Mol Dis , vol.23 , pp. 95-98
    • Beutler, E.1    Gelbart, T.2
  • 53
    • 0032496881 scopus 로고    scopus 로고
    • Hereditary hemochromatosis: Gene discovery and its implications for population-based screening
    • Burke W, Thomson E, Khoury MJ, et al. Hereditary hemochromatosis: Gene discovery and its implications for population-based screening. JAMA 1998; 280: 172-178.
    • (1998) JAMA , vol.280 , pp. 172-178
    • Burke, W.1    Thomson, E.2    Khoury, M.J.3
  • 54
    • 0027319493 scopus 로고
    • Screening for hemochromatosis
    • Edwards CQ, Kushner JP. Screening for hemochromatosis. N Engl J Med 1993; 328: 1616-1620.
    • (1993) N Engl J Med , vol.328 , pp. 1616-1620
    • Edwards, C.Q.1    Kushner, J.P.2
  • 55
    • 0028366852 scopus 로고
    • Preventing manifestations of hereditary haemochromatosis through population based screening
    • Haddow JE, Ledue TB. Preventing manifestations of hereditary haemochromatosis through population based screening. J Med Screen 1994; 1: 16-21.
    • (1994) J Med Screen , vol.1 , pp. 16-21
    • Haddow, J.E.1    Ledue, T.B.2
  • 56
    • 0030340194 scopus 로고    scopus 로고
    • Population screening for haemochromatosis: A unifying analysis of published intervention trials
    • Bradley LA, Haddow JE, Palomaki GE. Population screening for haemochromatosis: A unifying analysis of published intervention trials. J Med Screen 1996; 3: 178-184.
    • (1996) J Med Screen , vol.3 , pp. 178-184
    • Bradley, L.A.1    Haddow, J.E.2    Palomaki, G.E.3
  • 57
    • 0002836620 scopus 로고
    • The principle and practise of screening for disease
    • Wilson J, Junger G. The principle and practise of screening for disease. Public Health Papers WHO 1968; 34: 26-29.
    • (1968) Public Health Papers WHO , vol.34 , pp. 26-29
    • Wilson, J.1    Junger, G.2
  • 59
    • 0029029626 scopus 로고
    • Screening blood donors for hereditary hemochromatosis: Decision analysis model based on a 30-year database
    • Adams PC, Gregor JC, Kertesz AE, Valberg LS. Screening blood donors for hereditary hemochromatosis: Decision analysis model based on a 30-year database. Gastroenterology 1995; 109: 177-188.
    • (1995) Gastroenterology , vol.109 , pp. 177-188
    • Adams, P.C.1    Gregor, J.C.2    Kertesz, A.E.3    Valberg, L.S.4
  • 60
    • 0033014913 scopus 로고    scopus 로고
    • Screening for hemochromatosis: Phenotyping or genotyping or both?
    • Tavill A. Screening for hemochromatosis: Phenotyping or genotyping or both? Am J Gastroenterol 1999; 94: 1430-1433.
    • (1999) Am J Gastroenterol , vol.94 , pp. 1430-1433
    • Tavill, A.1
  • 61
    • 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: 211-218.
    • (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
  • 62
    • 0031793132 scopus 로고    scopus 로고
    • The significance of haemochromatosis gene mutations in the general population: Implications for screening
    • Burt MJ, George PM, Upton JD, et al. The significance of haemochromatosis gene mutations in the general population: Implications for screening. Gut 1998; 43: 830-836.
    • (1998) Gut , vol.43 , pp. 830-836
    • Burt, M.J.1    George, P.M.2    Upton, J.D.3
  • 63
    • 0033050583 scopus 로고    scopus 로고
    • Screening blood donors fot hereditery hemochromatosis: Decision analysis model comparing genotyping to phenotyping
    • Adams P, Valberg L. Screening blood donors fot hereditery hemochromatosis: Decision analysis model comparing genotyping to phenotyping. Am J Gastroenteroly 1999; 94: 1593-1600.
    • (1999) Am J Gastroenteroly , vol.94 , pp. 1593-1600
    • Adams, P.1    Valberg, L.2
  • 64
    • 84942476530 scopus 로고
    • Cost-effectiveness of screening for hereditary hemochromatosis
    • Phatak PD, Guzman G, Woll JE, Robeson A, Phelps CE. Cost-effectiveness of screening for hereditary hemochromatosis. Arch Intern Med. 1994; 11(154): 769-776; Allen K, Warner B, Delatyecki M. Clinical hemochromatosis in HFE mutation carriers. Lancet 2002; 360: 412-413.
    • (1994) Arch Intern Med , vol.11 , Issue.154 , pp. 769-776
    • Phatak, P.D.1    Guzman, G.2    Woll, J.E.3    Robeson, A.4    Phelps, C.E.5
  • 65
    • 0346553006 scopus 로고    scopus 로고
    • Clinical hemochromatosis in HFE mutation carriers
    • Phatak PD, Guzman G, Woll JE, Robeson A, Phelps CE. Cost-effectiveness of screening for hereditary hemochromatosis. Arch Intern Med. 1994; 11(154): 769-776; Allen K, Warner B, Delatyecki M. Clinical hemochromatosis in HFE mutation carriers. Lancet 2002; 360: 412-413.
    • (2002) Lancet , vol.360 , pp. 412-413
    • Allen, K.1    Warner, B.2    Delatyecki, M.3
  • 66
    • 0033086312 scopus 로고    scopus 로고
    • Human genome epidemiology: Translating advances in human genetics into population-based data for medicine and public health
    • Khoury MJ. Human genome epidemiology: Translating advances in human genetics into population-based data for medicine and public health. Genet Med 1999; 1: 71-73.
    • (1999) Genet Med , vol.1 , pp. 71-73
    • Khoury, M.J.1
  • 67
    • 0034644254 scopus 로고    scopus 로고
    • Will genetics revolutionize medicine?
    • Holtzman NA, Marteau TM. Will genetics revolutionize medicine? N Engl J Med 2000; 343: 141-144.
    • (2000) N Engl J Med , vol.343 , pp. 141-144
    • Holtzman, N.A.1    Marteau, T.M.2
  • 68
    • 0037366790 scopus 로고    scopus 로고
    • A population-based study of the effect of the HFE C282Y and H63D mutations on iron metabolism
    • Njajou OT, Houwing-Duistermaat JJ, Osborne R, et al. A population-based study of the effect of the HFE C282Y and H63D mutations on iron metabolism. Eur J Hum Gen 2003; 11: 225-231.
    • (2003) Eur J Hum Gen , vol.11 , pp. 225-231
    • Njajou, O.T.1    Houwing-Duistermaat, J.J.2    Osborne, R.3
  • 70
    • 0036323829 scopus 로고    scopus 로고
    • Penetrance of HFE-related hemochromatosis in perspective
    • Bassett ML, Wilson SR, Cavanaugh JA. Penetrance of HFE-related hemochromatosis in perspective. Hepatology 2002; 36: 500-503.
    • (2002) Hepatology , vol.36 , pp. 500-503
    • Bassett, M.L.1    Wilson, S.R.2    Cavanaugh, J.A.3
  • 71
    • 0346553006 scopus 로고    scopus 로고
    • Clinical hemochromatosis in HFE mutation carriers
    • Cox T, Rochette J, Camaschella C, Walker A, K R. Clinical hemochromatosis in HFE mutation carriers. Lancet 2002; 360: 412.
    • (2002) Lancet , vol.360 , pp. 412
    • Cox, T.1    Rochette, J.2    Camaschella, C.3    Walker, A.4
  • 72
    • 0013400014 scopus 로고    scopus 로고
    • Clinical hemochromatosis in HFE mutation carriers
    • Poullis A, Moodie SJ, Maxwell JD. Clinical hemochromatosis in HFE mutation carriers. The Lancet 2002; 360: 411.
    • (2002) The Lancet , vol.360 , pp. 411
    • Poullis, A.1    Moodie, S.J.2    Maxwell, J.D.3
  • 73
  • 74
    • 0036834414 scopus 로고    scopus 로고
    • The role of hemochromatosis C282Y and H63D mutations in type 2 diabetes
    • Njajou OT, Alizadeh BZ, Vaessen N, et al. The role of hemochromatosis C282Y and H63D mutations in type 2 diabetes. Diabetes Care 2002; 25: 2112-2113.
    • (2002) Diabetes Care , vol.25 , pp. 2112-2113
    • Njajou, O.T.1    Alizadeh, B.Z.2    Vaessen, N.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.