메뉴 건너뛰기




Volumn 4, Issue 3, 2009, Pages 225-239

Genetics of hereditary hemochromatosis: A clinical perspective

Author keywords

C282Y mutation; Clinical penetrance; Ferritin; HFE hermochromatosis; Iron overload phenotype

Indexed keywords

ASPARTIC ACID; BONE MORPHOGENETIC PROTEIN; CD71 ANTIGEN; COLLAGEN TYPE 4; CYSTEINE; FERRITIN; FERROPORTIN; GLUTATHIONE TRANSFERASE P1; GROWTH DIFFERENTIATION FACTOR 15; HAPTOGLOBIN; HEMOJUVELIN; HEPCIDIN; HFE PROTEIN; HISTIDINE; HYALURONIC ACID; IMMUNOGLOBULIN; IRON BINDING PROTEIN; MANGANESE SUPEROXIDE DISMUTASE; MONOCYTE CHEMOTACTIC PROTEIN 1; MYELOPEROXIDASE; NONHEME IRON PROTEIN; PLASMA PROTEIN; TRANSFERRIN RECEPTOR 2; TRANSFORMING GROWTH FACTOR BETA1; TUMOR NECROSIS FACTOR ALPHA; TYROSINE;

EID: 70149087337     PISSN: 17446651     EISSN: None     Source Type: Journal    
DOI: 10.1586/eem.09.9     Document Type: Review
Times cited : (3)

References (136)
  • 1
    • 9344224529 scopus 로고    scopus 로고
    • A novel MHC class 1-like gene is mutated in patients with hereditary hemochromatosis
    • Feder JN, Gnirke A, Thomas W et al. A novel MHC class 1-like gene is mutated in patients with hereditary hemochromatosis. Nat. Genet. 13, 399-408 (1996).
    • (1996) Nat. Genet , vol.13 , pp. 399-408
    • Feder, J.N.1    Gnirke, A.2    Thomas, W.3
  • 4
    • 0032988517 scopus 로고    scopus 로고
    • Genotyping as a diagnostic aid in genetic hemochromatosis
    • Rossi E, Henderson S, Chin CYB et al. Genotyping as a diagnostic aid in genetic hemochromatosis. J. Gastro. Hepatol. 14, 427-430(1999).
    • (1999) J. Gastro. Hepatol , vol.14 , pp. 427-430
    • Rossi, E.1    Henderson, S.2    Chin, C.Y.B.3
  • 5
    • 0033599057 scopus 로고    scopus 로고
    • Disorders of iron metabolism
    • Andrews NC. Disorders of iron metabolism. N. Engl. J. Med. 341, 1986-1995 (1999).
    • (1999) N. Engl. J. Med , vol.341 , pp. 1986-1995
    • Andrews, N.C.1
  • 7
    • 36549053552 scopus 로고    scopus 로고
    • Haemochromatosis
    • Adams PC, Barton JC. Haemochromatosis. Lancet 370, 1855-1860 (2007).
    • (2007) Lancet , vol.370 , pp. 1855-1860
    • Adams, P.C.1    Barton, J.C.2
  • 8
    • 0035793856 scopus 로고    scopus 로고
    • An iron-regulated ferric reductase associated with the absorption of dietary iron
    • McKie AT, Barrow D, Latunde-Dada GO et al. An iron-regulated ferric reductase associated with the absorption of dietary iron. Science 291, 1755-1759 (2001).
    • (2001) Science , vol.291 , pp. 1755-1759
    • McKie, A.T.1    Barrow, D.2    Latunde-Dada, G.O.3
  • 9
    • 0033861745 scopus 로고    scopus 로고
    • A novel duodenal iron-regulated transporter, IREG1, implicated in the basolateral transfer of iron to the circulation
    • McKie AT, Marciani P, Rolfs A et al. A novel duodenal iron-regulated transporter, IREG1, implicated in the basolateral transfer of iron to the circulation. Mol. Cell 5, 299-309 (2000).
    • (2000) Mol. Cell , vol.5 , pp. 299-309
    • McKie, A.T.1    Marciani, P.2    Rolfs, A.3
  • 10
    • 0032909207 scopus 로고    scopus 로고
    • Hephaestin, a ceruloplasmin homologue implicated in intestinal iron transport, is defective in the sla mouse
    • Vulpe CD, Kuo Y-M, Murphy TL et al. Hephaestin, a ceruloplasmin homologue implicated in intestinal iron transport, is defective in the sla mouse. Nat. Genet. 21, 195-199 (1999).
    • (1999) Nat. Genet , vol.21 , pp. 195-199
    • Vulpe, C.D.1    Kuo, Y.-M.2    Murphy, T.L.3
  • 11
    • 0027452550 scopus 로고
    • Regulating the fate of mRNA: The control of cellular iron metabolism
    • Klausner RD, Rouault TA, Harford JB. Regulating the fate of mRNA: the control of cellular iron metabolism. Cell 72, 19-28 (1993).
    • (1993) Cell , vol.72 , pp. 19-28
    • Klausner, R.D.1    Rouault, T.A.2    Harford, J.B.3
  • 12
    • 51549104704 scopus 로고    scopus 로고
    • Iron uptake from plasma transferrin in a transferrin receptor 2 mutant mouse model of haemochromatosis type 3
    • Chua ACG, Morgan EH, Herbison CE et al. Iron uptake from plasma transferrin in a transferrin receptor 2 mutant mouse model of haemochromatosis type 3. Am. J. Hematol. 82, 531 (2007).
    • (2007) Am. J. Hematol , vol.82 , pp. 531
    • Chua, A.C.G.1    Morgan, E.H.2    Herbison, C.E.3
  • 13
    • 0024564712 scopus 로고
    • Non-transferrin-bound iron in plasma or serum from patients with idiopathic hemochromatosis. Characterization by high performance liquid chromatography and nuclear magnetic resonance spectroscopy
    • Grootveld M, Bell JD, Halliwell B, Aruoma OI, Bomford A, Sadler PJ. Non-transferrin-bound iron in plasma or serum from patients with idiopathic hemochromatosis. Characterization by high performance liquid chromatography and nuclear magnetic resonance spectroscopy. J. Biol. Chem. 264, 4417-4422 (1989).
    • (1989) J. Biol. Chem , vol.264 , pp. 4417-4422
    • Grootveld, M.1    Bell, J.D.2    Halliwell, B.3    Aruoma, O.I.4    Bomford, A.5    Sadler, P.J.6
  • 14
    • 0033677772 scopus 로고    scopus 로고
    • The importance of non-transferrin bound iron in disorders of iron metabolism
    • Breuer W, Hershko C, Cabantchik ZI. The importance of non-transferrin bound iron in disorders of iron metabolism. Transfus. Sci. 23, 185-192 (2000).
    • (2000) Transfus. Sci , vol.23 , pp. 185-192
    • Breuer, W.1    Hershko, C.2    Cabantchik, Z.I.3
  • 16
    • 10844258104 scopus 로고    scopus 로고
    • Hepcidin regulates cellular iron efflux by binding to ferroportin and inducing its internalization
    • Nemeth E, Tuttle MS, Powelson J et al. Hepcidin regulates cellular iron efflux by binding to ferroportin and inducing its internalization. Science 306, 2090-2093 (2004).
    • (2004) Science , vol.306 , pp. 2090-2093
    • Nemeth, E.1    Tuttle, M.S.2    Powelson, J.3
  • 18
    • 0036791486 scopus 로고    scopus 로고
    • The gene encoding the iron regulatory peptide hepcidin is regulated by anemia, hypoxia, and inflammation
    • Nicolas G, Chauvet C, Viatte L et al. The gene encoding the iron regulatory peptide hepcidin is regulated by anemia, hypoxia, and inflammation. J. Clin. Invest. 110, 1037-1044 (2002).
    • (2002) J. Clin. Invest , vol.110 , pp. 1037-1044
    • Nicolas, G.1    Chauvet, C.2    Viatte, L.3
  • 19
    • 0001257976 scopus 로고
    • Idiopathic hemochromatosis, an iron storage disease. A. Iron metabolism in hemochromatosis
    • Finch SC, Finch CA. Idiopathic hemochromatosis, an iron storage disease. A. Iron metabolism in hemochromatosis. Medicine (Baltimore) 34, 381-430 (1955).
    • (1955) Medicine (Baltimore) , vol.34 , pp. 381-430
    • Finch, S.C.1    Finch, C.A.2
  • 20
    • 0037962795 scopus 로고    scopus 로고
    • The orchestration of body iron intake: How and where do enterocytes receive their cues?
    • Frazer DM, Anderson GJ. The orchestration of body iron intake: how and where do enterocytes receive their cues? Blood Cells Mol. Dis. 330, 288-297 (2003).
    • (2003) Blood Cells Mol. Dis , vol.330 , pp. 288-297
    • Frazer, D.M.1    Anderson, G.J.2
  • 21
    • 0032991330 scopus 로고    scopus 로고
    • Hereditary hemochromatosis: Diagnosis and management in the gene era
    • Olynyk JK. Hereditary hemochromatosis: diagnosis and management in the gene era. Liver 19, 73-80 (1999).
    • (1999) Liver , vol.19 , pp. 73-80
    • Olynyk, J.K.1
  • 22
    • 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, Du Sart D, Rossi E, Olynyk JK. A population-based study of the biochemical and clinical expression of the H63D hemochromatosis mutation. Gastroenterology 122, 646-651 (2002).
    • (2002) Gastroenterology , vol.122 , pp. 646-651
    • Gochee, P.A.1    Powell, L.W.2    Cullen, D.J.3    Du Sart, D.4    Rossi, E.5    Olynyk, J.K.6
  • 25
    • 28444436913 scopus 로고    scopus 로고
    • HFE hemochromatosis
    • Pietrangelo A. Non-HFE hemochromatosis. Semin. Liv. Dis. 450-460 (2005).
    • (2005) Semin. Liv. Dis , vol.450-460
    • Non, P.A.1
  • 26
    • 9144252017 scopus 로고    scopus 로고
    • Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis
    • Papanikolaou G, Samuels ME, Ludwig EH et al. Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis. Nat. Genet. 36, 77-82 (2004).
    • (2004) Nat. Genet , vol.36 , pp. 77-82
    • Papanikolaou, G.1    Samuels, M.E.2    Ludwig, E.H.3
  • 27
    • 10744230412 scopus 로고    scopus 로고
    • Juvenile hemochromatosis locus maps to chromosome 1q in a French Canadian population
    • Rivard SR, Lanzara C, Grimard D et al. Juvenile hemochromatosis locus maps to chromosome 1q in a French Canadian population. Eur. J. Hum. Genet. 11, 585-589 (2003).
    • (2003) Eur. J. Hum. Genet , vol.11 , pp. 585-589
    • Rivard, S.R.1    Lanzara, C.2    Grimard, D.3
  • 28
    • 2542468736 scopus 로고    scopus 로고
    • Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis
    • Lanzara SP, Roetto A, Caraio F et al. Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis. Blood 103(11), 4317-4321 (2004).
    • (2004) Blood , vol.103 , Issue.11 , pp. 4317-4321
    • Lanzara, S.P.1    Roetto, A.2    Caraio, F.3
  • 29
    • 0034022636 scopus 로고    scopus 로고
    • The gene TFR2 is mutated in a new type of hemochromatosis mapping to 7q22
    • Camaschella C, Roetto A, Calà A et al. The gene TFR2 is mutated in a new type of hemochromatosis mapping to 7q22. Nat. Genet. 25, 14-15 (2000).
    • (2000) Nat. Genet , vol.25 , pp. 14-15
    • Camaschella, C.1    Roetto, A.2    CalÃ, A.3
  • 31
    • 0035353167 scopus 로고    scopus 로고
    • New mutations inactivating transferrin receptor 2 in hemochromatosis type 3
    • Roetto A, Totaro A, Piperno A et al. New mutations inactivating transferrin receptor 2 in hemochromatosis type 3. Blood 97, 2555-2560 (2001).
    • (2001) Blood , vol.97 , pp. 2555-2560
    • Roetto, A.1    Totaro, A.2    Piperno, A.3
  • 32
    • 0036242163 scopus 로고    scopus 로고
    • Clinical and pathologic findings in hemochromatosis type 3 due to a novel mutation in transferrin receptor 2 gene
    • Girelli D, Bozzini C, Roetto A et al. Clinical and pathologic findings in hemochromatosis type 3 due to a novel mutation in transferrin receptor 2 gene. Gastroenterology 122, 1295-1302 (2002).
    • (2002) Gastroenterology , vol.122 , pp. 1295-1302
    • Girelli, D.1    Bozzini, C.2    Roetto, A.3
  • 33
    • 20144381350 scopus 로고    scopus 로고
    • Two novel mutations, L490R and V561X, of the transferrin receptor 2 gene in Japanese patients with hemochromatosis
    • Koyama C, Wakusawa S, Hayashi H et al. Two novel mutations, L490R and V561X, of the transferrin receptor 2 gene in Japanese patients with hemochromatosis. Haematologica 90, 302-307 (2005).
    • (2005) Haematologica , vol.90 , pp. 302-307
    • Koyama, C.1    Wakusawa, S.2    Hayashi, H.3
  • 34
    • 2942582341 scopus 로고    scopus 로고
    • Early onset hereditary hemochromatosis resulting from a novel TFR2 gene nonsense mutation (R105X) in two siblings of north French descent
    • Le Gac G, Mons F, Jacolot S, Scotet V, Ferec C, Frebourg T. Early onset hereditary hemochromatosis resulting from a novel TFR2 gene nonsense mutation (R105X) in two siblings of north French descent. Br. J. Haematol. 125, 674-678 (2004).
    • (2004) Br. J. Haematol , vol.125 , pp. 674-678
    • Le Gac, G.1    Mons, F.2    Jacolot, S.3    Scotet, V.4    Ferec, C.5    Frebourg, T.6
  • 35
    • 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 et al. Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron overload: identification of a novel TfR2 mutation. Blood 100, 1075-1077 (2002).
    • (2002) Blood , vol.100 , pp. 1075-1077
    • Mattman, A.1    Huntsman, D.2    Lockitch, G.3
  • 36
    • 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. 108, 619-623 (2001).
    • (2001) J. Clin. Invest , vol.108 , pp. 619-623
    • Montosi, G.1    Donovan, A.2    Totaro, A.3
  • 37
    • 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. 28, 213-214 (2001).
    • (2001) Nat. Genet , vol.28 , pp. 213-214
    • Njajou, O.T.1    Vaessen, N.2    Joosse, M.3
  • 38
    • 34047198023 scopus 로고    scopus 로고
    • Association of ferroportin Q248H polymorphism with elevated levels of serum ferritin in African Americans in the Hemochromatosis and Iron Overload Screening (HEIRS) Study
    • Rivers CA, Barton JC, Gordeuk VR et al. Association of ferroportin Q248H polymorphism with elevated levels of serum ferritin in African Americans in the Hemochromatosis and Iron Overload Screening (HEIRS) Study. Blood Cells Mol. Dis. 38,247-252 (2007).
    • (2007) Blood Cells Mol. Dis , vol.38 , pp. 247-252
    • Rivers, C.A.1    Barton, J.C.2    Gordeuk, V.R.3
  • 39
    • 0037622887 scopus 로고    scopus 로고
    • A novel mutation in ferroportin 1 is associated with hemochromatosis in a Solomon Islands patient
    • Arden KE, Wallace DF, Dixon JL et al. A novel mutation in ferroportin 1 is associated with hemochromatosis in a Solomon Islands patient. Gut 52, 1215-1217 (2003).
    • (2003) Gut , vol.52 , pp. 1215-1217
    • Arden, K.E.1    Wallace, D.F.2    Dixon, J.L.3
  • 40
    • 30344475534 scopus 로고    scopus 로고
    • Autosomal dominant hereditary hemochromatosis associated with two novel ferroportin 1 mutations in Spain
    • Bach V, Remacha A, Altes A, Barcelo MJ, Molina MA, Baiget M. Autosomal dominant hereditary hemochromatosis associated with two novel ferroportin 1 mutations in Spain. Blood Cells Mol. Dis. 36,41-45 (2006).
    • (2006) Blood Cells Mol. Dis , vol.36 , pp. 41-45
    • Bach, V.1    Remacha, A.2    Altes, A.3    Barcelo, M.J.4    Molina, M.A.5    Baiget, M.6
  • 41
    • 10744232713 scopus 로고    scopus 로고
    • Iron overload in Africans and African - Americans and a common mutation in the SCL40A1 (ferroportin 1) gene
    • Gordeuk VR, Caleffi A, Corradini E et al. Iron overload in Africans and African - Americans and a common mutation in the SCL40A1 (ferroportin 1) gene. Blood Cells Mol. Dis. 31, 299-304 (2003).
    • (2003) Blood Cells Mol. Dis , vol.31 , pp. 299-304
    • Gordeuk, V.R.1    Caleffi, A.2    Corradini, E.3
  • 42
    • 0037860450 scopus 로고    scopus 로고
    • Molecular analyses of patients with hyperferritinemia and normal serum iron values reveal both L ferritin IRE and 3 new ferroportin (slc11A3) mutations
    • Hetet G, Devaux I, Soufir N, Grandchamp B, Beaumont C. Molecular analyses of patients with hyperferritinemia and normal serum iron values reveal both L ferritin IRE and 3 new ferroportin (slc11A3) mutations. Blood 102, 1904-1910 (2003).
    • (2003) Blood , vol.102 , pp. 1904-1910
    • Hetet, G.1    Devaux, I.2    Soufir, N.3    Grandchamp, B.4    Beaumont, C.5
  • 43
    • 10744219904 scopus 로고    scopus 로고
    • Novel mutation in ferroportin 1 gene is associated with autosomal dominant iron overload
    • Jouanolle A-M, Douabin-Gicquel V, Halimi C et al. Novel mutation in ferroportin 1 gene is associated with autosomal dominant iron overload. J. Hepatol. 39, 286-289 (2003).
    • (2003) J. Hepatol , vol.39 , pp. 286-289
    • Jouanolle, A.-M.1    Douabin-Gicquel, V.2    Halimi, C.3
  • 44
    • 21144435281 scopus 로고    scopus 로고
    • The molecular basis of ferroportin-linked hemochromatosis
    • De Domenico I, Ward DM, Nemeth E et al. The molecular basis of ferroportin-linked hemochromatosis. Proc. Natl Acad. Sci. USA 102, 8955-8960 (2005).
    • (2005) Proc. Natl Acad. Sci. USA , vol.102 , pp. 8955-8960
    • De Domenico, I.1    Ward, D.M.2    Nemeth, E.3
  • 45
    • 23044508432 scopus 로고    scopus 로고
    • Resistance to hepcidin is conferred by hemochromatosis-associated mutations of ferroportin
    • Drakesmith H, Schimanski LM, Ormerod E et al. Resistance to hepcidin is conferred by hemochromatosis-associated mutations of ferroportin. Blood 106, 1092-1097 (2005).
    • (2005) Blood , vol.106 , pp. 1092-1097
    • Drakesmith, H.1    Schimanski, L.M.2    Ormerod, E.3
  • 46
    • 20844462571 scopus 로고    scopus 로고
    • In vitro functional analysis of human ferroportin (FPN) and hemochromatosis-associated FPN mutations
    • Schimanski LM, Drakesmith H, Merryweather-Clarke AT et al. In vitro functional analysis of human ferroportin (FPN) and hemochromatosis-associated FPN mutations. Blood 105, 4096-4102 (2005).
    • (2005) Blood , vol.105 , pp. 4096-4102
    • Schimanski, L.M.1    Drakesmith, H.2    Merryweather-Clarke, A.T.3
  • 47
    • 43949091836 scopus 로고    scopus 로고
    • The role of HFE in transferrin-bound iron uptake by hepatocytes
    • Chua ACG, Herbison CE, Drake SF et al. The role of HFE in transferrin-bound iron uptake by hepatocytes Hepatology 47(5), 1737-1744 (2008).
    • (2008) Hepatology , vol.47 , Issue.5 , pp. 1737-1744
    • Chua, A.C.G.1    Herbison, C.E.2    Drake, S.F.3
  • 50
    • 0027360042 scopus 로고
    • Studies on familial hypotransferrinemia: Unique clinical course and molecular pathology
    • Hayashi A, Wada Y, Suzuki T, Shimizu A. Studies on familial hypotransferrinemia: unique clinical course and molecular pathology. Am. J. Hum. Genet. 53, 201-213 (1993).
    • (1993) Am. J. Hum. Genet , vol.53 , pp. 201-213
    • Hayashi, A.1    Wada, Y.2    Suzuki, T.3    Shimizu, A.4
  • 51
    • 34548127283 scopus 로고    scopus 로고
    • Neonatal hemochromatosis: A congenital alloimmune hepatitis
    • Whitington PF. Neonatal hemochromatosis: a congenital alloimmune hepatitis. Semin. Liver Dis. 243-250 (2007).
    • (2007) Semin. Liver Dis , vol.243-250
    • Whitington, P.F.1
  • 52
    • 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. 352, 1769-1778 (2005).
    • (2005) N. Engl. J. Med , vol.352 , pp. 1769-1778
    • Adams, P.C.1    Reboussin, D.M.2    Barton, J.C.3
  • 53
    • 0037132786 scopus 로고    scopus 로고
    • Penetrance of 845G A (C282Y) HFE hereditary hemochromatosis mutation in the USA
    • Beutler E, Felitti VJ, Koziol JA, Ho NJ, Gelbart T. Penetrance of 845G A (C282Y) HFE hereditary hemochromatosis mutation in the USA. Lancet 359, 211-218 (2002).
    • (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
  • 54
  • 55
    • 22544455045 scopus 로고    scopus 로고
    • Use of community genetic screening to prevent HFE- associated hereditary hemochromatosis
    • Delatycki MB, Allen KJ, Nisselle AE et al. Use of community genetic screening to prevent HFE- associated hereditary hemochromatosis. Lancet 366, 314-316 (2005).
    • (2005) Lancet , vol.366 , pp. 314-316
    • Delatycki, M.B.1    Allen, K.J.2    Nisselle, A.E.3
  • 56
    • 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. 79(3), 309-313 (2004).
    • (2004) Mayo Clin. Proc , 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
  • 57
    • 0141961623 scopus 로고    scopus 로고
    • Natural history of the C282Y homozygote for the hemochromatosis gene (HFE) with a normal serum ferritin level
    • Yamashita C, Adams PC. Natural history of the C282Y homozygote for the hemochromatosis gene (HFE) with a normal serum ferritin level. Clin. Gastroenterol. Hepatol. 1(5), 388-391 (2003).
    • (2003) Clin. Gastroenterol. Hepatol , vol.1 , Issue.5 , pp. 388-391
    • Yamashita, C.1    Adams, P.C.2
  • 58
    • 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. Int. Med. 166, 294-301 (2006).
    • (2006) Arch. Int. Med , vol.166 , pp. 294-301
    • Powell, L.W.1    Dixon, J.L.2    Ramm, G.A.3
  • 59
    • 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 135(6), 1945-1952 (2008).
    • (2008) Gastroenterology , vol.135 , Issue.6 , pp. 1945-1952
    • Gurrin, L.C.1    Osborne, N.J.2    Constantine, C.C.3
  • 60
    • 0032401727 scopus 로고    scopus 로고
    • Management of hemochromatosis. Hemochromatosis Management Working Group
    • Barton JC, McDonnell SM, Adams PC et al. Management of hemochromatosis. Hemochromatosis Management Working Group. Ann. Intern. Med. 129, 932-939 (1998).
    • (1998) Ann. Intern. Med , vol.129 , pp. 932-939
    • Barton, J.C.1    McDonnell, S.M.2    Adams, P.C.3
  • 61
    • 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. 358(3), 221-230 (2008).
    • (2008) N. Engl. J. Med , vol.358 , Issue.3 , pp. 221-230
    • Allen, K.J.1    Gurrin, L.C.2    Constantine, C.C.3
  • 62
    • 11144254037 scopus 로고    scopus 로고
    • HLA haplotype A*03-B*07 in hemochromatosis probands with HFE C282Y homozygosity: Frequency disparity in men and women and lack of association with severity of iron overload
    • Barton JC, Wiener HW, Acton RT, Go RC. HLA haplotype A*03-B*07 in hemochromatosis probands with HFE C282Y homozygosity: frequency disparity in men and women and lack of association with severity of iron overload. Blood Cells Mol. Dis. 34, 38-47 (2005).
    • (2005) Blood Cells Mol. Dis , vol.34 , pp. 38-47
    • Barton, J.C.1    Wiener, H.W.2    Acton, R.T.3    Go, R.C.4
  • 63
    • 33745963451 scopus 로고    scopus 로고
    • + T-lymphocyte profile as a modifier of iron overload in HFE hemochromatosis: An update of clinical and immunological data from 70 C282Y homozygous subjects
    • + T-lymphocyte profile as a modifier of iron overload in HFE hemochromatosis: an update of clinical and immunological data from 70 C282Y homozygous subjects. Blood Cells Mol. Dis. 37(1), 33-39 (2006).
    • (2006) Blood Cells Mol. Dis , vol.37 , Issue.1 , pp. 33-39
    • Cruz, E.1    Melo, G.2    Lacerda, R.3    Almeida, S.4    Porto, G.5
  • 64
    • 11144284562 scopus 로고    scopus 로고
    • Hepatic iron loading in patients with compound heterozygous HFE mutations
    • Lim EM, Rossi E, De Boer WB, Reed WD, Jeffrey GP. Hepatic iron loading in patients with compound heterozygous HFE mutations. Liver Int. 24, 631-636 (2004).
    • (2004) Liver Int , vol.24 , pp. 631-636
    • Lim, E.M.1    Rossi, E.2    De Boer, W.B.3    Reed, W.D.4    Jeffrey, G.P.5
  • 65
    • 70149119558 scopus 로고    scopus 로고
    • Gurrin LC, Bertalli, Dalton GW et al. HFE-compound heterozygotes are at low risk of hemochromatosis-related morbidity (In Press) (2009).
    • Gurrin LC, Bertalli, Dalton GW et al. HFE-compound heterozygotes are at low risk of hemochromatosis-related morbidity (In Press) (2009).
  • 66
    • 70149113839 scopus 로고    scopus 로고
    • The clinical relevance of compound heterozygosity for the C282Y and H63D substitutions in hemochromatosis
    • Walsh A, Dixon JL, Ramm GA et al. The clinical relevance of compound heterozygosity for the C282Y and H63D substitutions in hemochromatosis. Clin. Gastroenterol. Hepatol. 114(5), 1003-1008 (1998).
    • (1998) Clin. Gastroenterol. Hepatol , vol.114 , Issue.5 , pp. 1003-1008
    • Walsh, A.1    Dixon, J.L.2    Ramm, G.A.3
  • 68
    • 0031936407 scopus 로고    scopus 로고
    • Distribution of transferrin saturation in an Australian population: Relevance to the early diagnosis of hemochromatosis
    • McLaren CE, McLachlan GJ, Halliday JW et al. Distribution of transferrin saturation in an Australian population: relevance to the early diagnosis of hemochromatosis. Gastroenterology 114, 543-549 (1998).
    • (1998) Gastroenterology , vol.114 , pp. 543-549
    • McLaren, C.E.1    McLachlan, G.J.2    Halliday, J.W.3
  • 69
    • 0035116099 scopus 로고    scopus 로고
    • Hemochromatosis: Diagnosis and management
    • Bacon BR. Hemochromatosis: diagnosis and management. Gastroenterology 120, 718-725 (2001).
    • (2001) Gastroenterology , vol.120 , pp. 718-725
    • Bacon, B.R.1
  • 70
    • 0037164344 scopus 로고    scopus 로고
    • Genetics of hemochromatosis
    • Bomford A. Genetics of hemochromatosis. Lancet 360, 1673-1681 (2002).
    • (2002) Lancet , vol.360 , pp. 1673-1681
    • Bomford, A.1
  • 71
    • 33746830877 scopus 로고    scopus 로고
    • Screening for hereditary hemochromatosis: A systematic review for the US Preventive Services Task Force
    • Whitlock EP, Garlitz BA, Harris EL, Beil TL, Smith PR. Screening for hereditary hemochromatosis: a systematic review for the US Preventive Services Task Force. Ann. Intern. Med. 145, 209-223 (2006).
    • (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
  • 72
    • 43549101420 scopus 로고    scopus 로고
    • Screening for hemochromatosis by measuring ferretin levels: A more effective approach
    • Waalen J, Felitti VJ, Gelbart T, Beutler E. Screening for hemochromatosis by measuring ferretin levels: a more effective approach. Blood 111, 3373-3376 (2008).
    • (2008) Blood , vol.111 , pp. 3373-3376
    • Waalen, J.1    Felitti, V.J.2    Gelbart, T.3    Beutler, E.4
  • 73
    • 17544370537 scopus 로고    scopus 로고
    • Duration of hepatic iron exposure increases the risk of significant fibrosis in hereditary hemochromatosis: A new role for magnetic resonance imaging
    • Olynyk JK, St Pierre TG, Britton RS, Brunt EM, Bacon BR. Duration of hepatic iron exposure increases the risk of significant fibrosis in hereditary hemochromatosis: a new role for magnetic resonance imaging. Am. J. Gastroenterol. 100, 837-841 (2005).
    • (2005) Am. J. Gastroenterol , vol.100 , pp. 837-841
    • Olynyk, J.K.1    St Pierre, T.G.2    Britton, R.S.3    Brunt, E.M.4    Bacon, B.R.5
  • 74
    • 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. 166, 294-301 (2006).
    • (2006) Arch. Intern. Med , vol.166 , pp. 294-301
    • Powell, L.W.1    Dixon, J.L.2    Ramm, G.A.3
  • 75
    • 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. 51, 1048-1052 (2005).
    • (2005) Clin. Chem , vol.51 , pp. 1048-1052
    • Adams, P.C.1    Reboussin, D.M.2    Leiendecker-Foster, C.3
  • 76
    • 60949110242 scopus 로고    scopus 로고
    • Predicting iron overload in hyperferretinemia
    • Olynyk JK, Gan E, Tan T. Predicting iron overload in hyperferretinemia. Clin. Gastrol. Hepatol. 7(3), 359-362 (2009).
    • (2009) Clin. Gastrol. Hepatol , vol.7 , Issue.3 , pp. 359-362
    • Olynyk, J.K.1    Gan, E.2    Tan, T.3
  • 77
    • 0018766064 scopus 로고
    • Nuclear resonant scattering of γ rays - a new technique for in vivo measurement of body iron stores
    • Vartsky D, Ellis KJ, Hull DM, Cohn SH. Nuclear resonant scattering of γ rays - a new technique for in vivo measurement of body iron stores. Phys. Med. Biol. 24, 689-701 (1979).
    • (1979) Phys. Med. Biol , vol.24 , pp. 689-701
    • Vartsky, D.1    Ellis, K.J.2    Hull, D.M.3    Cohn, S.H.4
  • 79
    • 0037217987 scopus 로고    scopus 로고
    • Noninvasive measurement of iron: Report of an NIDDK workshop
    • Brittenham GM, Badman DG. Noninvasive measurement of iron: report of an NIDDK workshop. Blood 101, 15-19 (2003).
    • (2003) Blood , vol.101 , pp. 15-19
    • Brittenham, G.M.1    Badman, D.G.2
  • 80
    • 33744942151 scopus 로고    scopus 로고
    • Review article: The modern diagnosis and management of haemochromatosis
    • Adams PC. Review article: the modern diagnosis and management of haemochromatosis. Aliment. Pharmacol. Ther. 23, 1681-1691 (2006).
    • (2006) Aliment. Pharmacol. Ther , vol.23 , pp. 1681-1691
    • Adams, P.C.1
  • 81
    • 9144273737 scopus 로고    scopus 로고
    • MR quantification of hepatic iron concentration
    • Alustiza JM, Artetxe J, Castiella A et al. MR quantification of hepatic iron concentration. Radiology 230, 479-484 (2004).
    • (2004) Radiology , vol.230 , pp. 479-484
    • Alustiza, J.M.1    Artetxe, J.2    Castiella, A.3
  • 82
    • 11244355277 scopus 로고    scopus 로고
    • Noninvasive measurement and imaging of liver iron concentrations using proton magnetic resonance
    • St Pierre TG, Clark PR, Chua-Anusorn W et al. Noninvasive measurement and imaging of liver iron concentrations using proton magnetic resonance. Blood 105, 855-861 (2005).
    • (2005) Blood , vol.105 , pp. 855-861
    • St Pierre, T.G.1    Clark, P.R.2    Chua-Anusorn, W.3
  • 83
    • 0842283228 scopus 로고    scopus 로고
    • Non-invasive assessment of hepatic iron stores by MRI
    • Gandon Y, Olivie D, Guyader D et al. Non-invasive assessment of hepatic iron stores by MRI. Lancet 363, 357-362 (2004).
    • (2004) Lancet , vol.363 , pp. 357-362
    • Gandon, Y.1    Olivie, D.2    Guyader, D.3
  • 84
    • 0031707469 scopus 로고    scopus 로고
    • Noninvasive prediction of fibrosis in C282Y homozygous hemochromatosis
    • Guyader D, Jacquelinet C, Moirand R et al. Noninvasive prediction of fibrosis in C282Y homozygous hemochromatosis. Gastroenterology 115, 929-936 (1998).
    • (1998) Gastroenterology , vol.115 , pp. 929-936
    • Guyader, D.1    Jacquelinet, C.2    Moirand, R.3
  • 85
    • 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. 36, 1108-1115 (2001).
    • (2001) Scand. J. Gastroenterol , vol.36 , pp. 1108-1115
    • Asberg, A.1    Hveem, K.2    Thorstensen, K.3
  • 88
    • 0035038147 scopus 로고    scopus 로고
    • Diagnosis and management of hemochromatosis
    • Tavill AS. Diagnosis and management of hemochromatosis. Hepatology 33, 1321-1328 (2001).
    • (2001) Hepatology , vol.33 , pp. 1321-1328
    • Tavill, A.S.1
  • 89
    • 61949381998 scopus 로고    scopus 로고
    • Serum hyaluronic acid with serum ferritin accurately predicts cirrhosis and reduces the need for liver biopsy in C282Y hemochromatosis
    • Crawford DH, Murphy DL, Ramm LE et al. Serum hyaluronic acid with serum ferritin accurately predicts cirrhosis and reduces the need for liver biopsy in C282Y hemochromatosis Hepatology 49(2), 418-425 (2009).
    • (2009) Hepatology , vol.49 , Issue.2 , pp. 418-425
    • Crawford, D.H.1    Murphy, D.L.2    Ramm, L.E.3
  • 90
    • 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 280, 172-178 (1998).
    • (1998) JAMA , vol.280 , pp. 172-178
    • Burke, W.1    Thomson, E.2    Khoury, M.J.3
  • 92
    • 1442331955 scopus 로고    scopus 로고
    • Screening for hemochromatosis: Patients with liver disease, families and population
    • Galhenage SP, Viiala CH, Olynyk JK. Screening for hemochromatosis: patients with liver disease, families and population. Curr. Gastroenterol. Rep. 6, 44-51 (2004).
    • (2004) Curr. Gastroenterol. Rep , vol.6 , pp. 44-51
    • Galhenage, S.P.1    Viiala, C.H.2    Olynyk, J.K.3
  • 93
    • 0014584303 scopus 로고
    • Iron absorption in idiopathic haemochromatosis and its measurement using a whole-body counter
    • Smith PM, Godfrey BE, Williams R. Iron absorption in idiopathic haemochromatosis and its measurement using a whole-body counter. Clin. Sci. 37(2), 519-531 (1969).
    • (1969) Clin. Sci , vol.37 , Issue.2 , pp. 519-531
    • Smith, P.M.1    Godfrey, B.E.2    Williams, R.3
  • 94
    • 0024446959 scopus 로고
    • Food iron absorption in idiopathic hemochromatosis
    • Lynch SR, Skikne BS, Cook JD. Food iron absorption in idiopathic hemochromatosis. Blood 74(6), 2187-2193 (1989).
    • (1989) Blood , vol.74 , Issue.6 , pp. 2187-2193
    • Lynch, S.R.1    Skikne, B.S.2    Cook, J.D.3
  • 95
    • 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 55(4), 554-562 (2006).
    • (2006) Gut , vol.55 , Issue.4 , pp. 554-562
    • McCune, C.A.1    Ravine, D.2    Carter, K.3
  • 96
    • 44149092230 scopus 로고    scopus 로고
    • Noncitrus fruits as novel dietary environmental modifiers of iron stores in people with or without HFE gene mutations
    • Milward EA, Baines SK, Knuiman MW et al. Noncitrus fruits as novel dietary environmental modifiers of iron stores in people with or without HFE gene mutations. Mayo Clin. Proc. 83(5), 543-549 (2008).
    • (2008) Mayo Clin. Proc , vol.83 , Issue.5 , pp. 543-549
    • Milward, E.A.1    Baines, S.K.2    Knuiman, M.W.3
  • 97
    • 27744561330 scopus 로고    scopus 로고
    • Diet and genetic factors associated with iron status in middle-aged women
    • Cade JE, Moreton JA, O'Hara B et al. Diet and genetic factors associated with iron status in middle-aged women. Am. J. Clin. Nutr. 82(4), 813-820 (2005).
    • (2005) Am. J. Clin. Nutr , vol.82 , Issue.4 , pp. 813-820
    • Cade, J.E.1    Moreton, J.A.2    O'Hara, B.3
  • 98
    • 33645969263 scopus 로고    scopus 로고
    • HFE genotypes and dietary heme iron: No evidence of strong gene-nutrient interaction on serum ferritin concentrations in middle-aged women
    • Van der A DL, Peeters PH, Grobbee DE, Roest M, Voorbij HA, van der Schouw YT. HFE genotypes and dietary heme iron: no evidence of strong gene-nutrient interaction on serum ferritin concentrations in middle-aged women. Nutr. Metab. Cardiovasc. Dis. 16(1), 60-68 (2006).
    • (2006) Nutr. Metab. Cardiovasc. Dis , vol.16 , Issue.1 , pp. 60-68
    • Van der, A.D.1    Peeters, P.H.2    Grobbee, D.E.3    Roest, M.4    Voorbij, H.A.5    van der6    Schouw, Y.T.7
  • 99
    • 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 6(1), 24-29 (1986).
    • (1986) Hepatology , vol.6 , Issue.1 , pp. 24-29
    • Bassett, M.L.1    Halliday, J.W.2    Powell, L.W.3
  • 100
    • 0035133172 scopus 로고    scopus 로고
    • The effect of haemochromatosis genotype and life-style factors on iron and red cell indices in a community population
    • Rossi E, Bulsara MK, Olynyk JK, Cullen DJ, Summerville L, Powell LW. The effect of haemochromatosis genotype and life-style factors on iron and red cell indices in a community population. Clin. Chem. 47, 202-208 (2001).
    • (2001) Clin. Chem , vol.47 , pp. 202-208
    • Rossi, E.1    Bulsara, M.K.2    Olynyk, J.K.3    Cullen, D.J.4    Summerville, L.5    Powell, L.W.6
  • 101
    • 0026316759 scopus 로고
    • Increase in glycosylated and nonglycosylated serum ferritin in chronic alcoholism and their evolution during alcohol withdrawal
    • Moirand R, Lescoat G, Delamaire D et al. Increase in glycosylated and nonglycosylated serum ferritin in chronic alcoholism and their evolution during alcohol withdrawal. Alcohol Clin. Exp. Res. 15(6), 963-969 (1991).
    • (1991) Alcohol Clin. Exp. Res , vol.15 , Issue.6 , pp. 963-969
    • Moirand, R.1    Lescoat, G.2    Delamaire, D.3
  • 102
    • 0037818787 scopus 로고    scopus 로고
    • Hereditary hemochromatosis: Effect of excessive alcohol consumption on disease expression in patients homozygous for the C282Y mutation
    • Scotet V, Merour MC, Mercier AY et al. Hereditary hemochromatosis: effect of excessive alcohol consumption on disease expression in patients homozygous for the C282Y mutation. Am. J. Epidemiol. 158(2), 129-134 (2003).
    • (2003) Am. J. Epidemiol , vol.158 , Issue.2 , pp. 129-134
    • Scotet, V.1    Merour, M.C.2    Mercier, A.Y.3
  • 103
    • 0036163634 scopus 로고    scopus 로고
    • Excess alcohol greatly increases the prevalence of cirrhosis in hereditary hemochromatosis
    • Fletcher LM, Dixon JL, Purdie DM, Powell LW, Crawford DH. Excess alcohol greatly increases the prevalence of cirrhosis in hereditary hemochromatosis. Gastroenterology 122(2), 281-289 (2002).
    • (2002) Gastroenterology , vol.122 , Issue.2 , pp. 281-289
    • Fletcher, L.M.1    Dixon, J.L.2    Purdie, D.M.3    Powell, L.W.4    Crawford, D.H.5
  • 104
    • 33644773569 scopus 로고    scopus 로고
    • Hepcidin is down-regulated in alcoholic liver injury: Implications for the pathogenesis of alcoholic liver disease
    • Bridle K, Cheung TK, Murphy T et al. Hepcidin is down-regulated in alcoholic liver injury: implications for the pathogenesis of alcoholic liver disease. Alcohol Clin. Exp. Res. 30(1), 106-112 (2006).
    • (2006) Alcohol Clin. Exp. Res , vol.30 , Issue.1 , pp. 106-112
    • Bridle, K.1    Cheung, T.K.2    Murphy, T.3
  • 105
    • 33747359666 scopus 로고    scopus 로고
    • Alcohol metabolism-mediated oxidative stress down-regulates hepcidin transcription and leads to increased duodenal iron transporter expression
    • Harrison-Findik DD, Schafer D, Klein E et al. Alcohol metabolism-mediated oxidative stress down-regulates hepcidin transcription and leads to increased duodenal iron transporter expression. J. Biol. Chem. 281, 22974-22982 (2006).
    • (2006) J. Biol. Chem , vol.281 , pp. 22974-22982
    • Harrison-Findik, D.D.1    Schafer, D.2    Klein, E.3
  • 106
    • 0033927849 scopus 로고    scopus 로고
    • Effects of HFE C2S2Y 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 C2S2Y and H63D polymorphisms and polygenic background on iron stores in a large community sample of twins. Am. J. Hum. Genet. 66(4), 1246-1258 (2000).
    • (2000) Am. J. Hum. Genet , vol.66 , Issue.4 , pp. 1246-1258
    • Whitfield, J.B.1    Cullen, L.M.2    Jazwinska, E.C.3
  • 107
    • 10744225120 scopus 로고    scopus 로고
    • Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis
    • Merryweather-Clarke AT, Cadet E, Bomford A et al. Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis. Hum. Mol. Genet. 12(17), 2241-2247 (2003).
    • (2003) Hum. Mol. Genet , vol.12 , Issue.17 , pp. 2241-2247
    • Merryweather-Clarke, A.T.1    Cadet, E.2    Bomford, A.3
  • 108
    • 1642367900 scopus 로고    scopus 로고
    • HAMP as a modifier gene that increases the phenotypic expression of the HFE pC282Y homozygous genotype
    • Jacolot S, Le Gac G, Scotet V, Quere I, Mura C, Ferec C. HAMP as a modifier gene that increases the phenotypic expression of the HFE pC282Y homozygous genotype. Blood 103(7), 2835-2840 (2004).
    • (2004) Blood , vol.103 , Issue.7 , pp. 2835-2840
    • Jacolot, S.1    Le Gac, G.2    Scotet, V.3    Quere, I.4    Mura, C.5    Ferec, C.6
  • 109
    • 4544314123 scopus 로고    scopus 로고
    • The recently identified type 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotype
    • Le Gac G, Scotet V, Ka C et al. The recently identified type 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotype. Hum. Mol. Genet. 13(17), 1913-1918 (2004).
    • (2004) Hum. Mol. Genet , vol.13 , Issue.17 , pp. 1913-1918
    • Le Gac, G.1    Scotet, V.2    Ka, C.3
  • 110
    • 0034493507 scopus 로고    scopus 로고
    • Haemochromatosis in patients with β-thalassaemia trait
    • Piperno A, Mariani R, Arosio C et al. Haemochromatosis in patients with β-thalassaemia trait. Br. J. Haematol. 111(3), 908-914 (2000).
    • (2000) Br. J. Haematol , vol.111 , Issue.3 , pp. 908-914
    • Piperno, A.1    Mariani, R.2    Arosio, C.3
  • 111
    • 34948904750 scopus 로고    scopus 로고
    • High levels of GDF15 in thalassemia suppress expression of the iron regulatory protein hepcidin
    • Tanno T, Bhanu NV, Oneal PA et al. High levels of GDF15 in thalassemia suppress expression of the iron regulatory protein hepcidin. Nat. Med. 13(9), 1096-1101 (2007).
    • (2007) Nat. Med , vol.13 , Issue.9 , pp. 1096-1101
    • Tanno, T.1    Bhanu, N.V.2    Oneal, P.A.3
  • 112
    • 35349002878 scopus 로고    scopus 로고
    • Common variants in the BMP2, BMP4, and HJV genes of the hepcidin regulation pathway modulate HFE hemochromatosis penetrance
    • Milet J, Dehais V, Bourgain C et al. Common variants in the BMP2, BMP4, and HJV genes of the hepcidin regulation pathway modulate HFE hemochromatosis penetrance. Am. J. Hum. Genet. 81(4), 799-807 (2007).
    • (2007) Am. J. Hum. Genet , vol.81 , Issue.4 , pp. 799-807
    • Milet, J.1    Dehais, V.2    Bourgain, C.3
  • 113
    • 0035206994 scopus 로고    scopus 로고
    • A study of genes that may modulate the expression of hereditary hemochromatosis: Transferrin receptor-1, ferroportin, ceruloplasmin, ferritin light and heavy chains, iron regulatory proteins (IRP)-1 and -2, and hepcidin
    • Lee PL, Gelbart T, West C, Halloran C, Felitti V, Beutler E. A study of genes that may modulate the expression of hereditary hemochromatosis: transferrin receptor-1, ferroportin, ceruloplasmin, ferritin light and heavy chains, iron regulatory proteins (IRP)-1 and -2, and hepcidin. Blood Cells Mol. Dis. 27(5), 783-802 (2001).
    • (2001) Blood Cells Mol. Dis , vol.27 , Issue.5 , pp. 783-802
    • Lee, P.L.1    Gelbart, T.2    West, C.3    Halloran, C.4    Felitti, V.5    Beutler, E.6
  • 115
    • 58049202750 scopus 로고    scopus 로고
    • Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels
    • Benyamin B, McRae AF, Zhu G et al. Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels. Am. J. Hum. Genet. 84(1), 60-65 (2009).
    • (2009) Am. J. Hum. Genet , vol.84 , Issue.1 , pp. 60-65
    • Benyamin, B.1    McRae, A.F.2    Zhu, G.3
  • 116
    • 0035742771 scopus 로고    scopus 로고
    • Haptoglobin phenotype 2-2 overrepresentation in Cys282Tyr hemochromatotic patients
    • Van Vlierberghe H, Langlois M, Delanghe J et al. Haptoglobin phenotype 2-2 overrepresentation in Cys282Tyr hemochromatotic patients. J. Hepatol. 35(6), 707-711 (2001).
    • (2001) J. Hepatol , vol.35 , Issue.6 , pp. 707-711
    • Van Vlierberghe, H.1    Langlois, M.2    Delanghe, J.3
  • 117
    • 15844397210 scopus 로고    scopus 로고
    • The ancestral hemochromatosis haplotype is associated with a severe phenotype expression in Italian patients
    • Piperno A, Arosio C, Fargion S et al. The ancestral hemochromatosis haplotype is associated with a severe phenotype expression in Italian patients. Hepatology 24(1), 43-46 (1996).
    • (1996) Hepatology , vol.24 , Issue.1 , pp. 43-46
    • Piperno, A.1    Arosio, C.2    Fargion, S.3
  • 118
    • 0032992157 scopus 로고    scopus 로고
    • Linkage disequilibrium analysis in Australian haemochromatosis patients indicates bipartite association with clinical expression
    • Pratiwi R, Fletcher LM, Pyper WR et al. Linkage disequilibrium analysis in Australian haemochromatosis patients indicates bipartite association with clinical expression. J. Hepatol. 31(1), 39-46 (1999).
    • (1999) J. Hepatol , vol.31 , Issue.1 , pp. 39-46
    • Pratiwi, R.1    Fletcher, L.M.2    Pyper, W.R.3
  • 119
    • 0029927660 scopus 로고    scopus 로고
    • Alcoholism in hereditary hemochromatosis revisited: Prevalence and clinical consequences among homozygous siblings
    • Adams PC, Agnew S. Alcoholism in hereditary hemochromatosis revisited: prevalence and clinical consequences among homozygous siblings. Hepatology 23(4), 724-727 (1996).
    • (1996) Hepatology , vol.23 , Issue.4 , pp. 724-727
    • Adams, P.C.1    Agnew, S.2
  • 121
    • 0036258015 scopus 로고    scopus 로고
    • Accelerated hepatic fibrosis in patients with combined hereditary hemochromatosis and chronic hepatitis C infection
    • Diwakaran HH, Befeler AS, Britton RS, Brunt EM, Bacon BR. Accelerated hepatic fibrosis in patients with combined hereditary hemochromatosis and chronic hepatitis C infection. J. Hepatol. 36(5), 687-691 (2002).
    • (2002) J. Hepatol , vol.36 , Issue.5 , pp. 687-691
    • Diwakaran, H.H.1    Befeler, A.S.2    Britton, R.S.3    Brunt, E.M.4    Bacon, B.R.5
  • 122
    • 28844482171 scopus 로고    scopus 로고
    • Steacosis is a cofactor in liver injury in hemochromatosis
    • Powell EE, Ali A, Clouston AD et al. Steacosis is a cofactor in liver injury in hemochromatosis. Gastroenterology 129(6), 1937-1943 (2005).
    • (2005) Gastroenterology , vol.129 , Issue.6 , pp. 1937-1943
    • Powell, E.E.1    Ali, A.2    Clouston, A.D.3
  • 123
    • 34249098685 scopus 로고    scopus 로고
    • Iron depletion by phlebotomy improves insulin resistance in patients with nonalcoholic fatty liver disease and hyperferritinemia: Evidence from a case - control study
    • Valenti L, Fracanzani AL, Dongiovanni P et al. Iron depletion by phlebotomy improves insulin resistance in patients with nonalcoholic fatty liver disease and hyperferritinemia: evidence from a case - control study. Am. J. Gastroenterol. 102(6), 1251-1258 (2007).
    • (2007) Am. J. Gastroenterol , vol.102 , Issue.6 , pp. 1251-1258
    • Valenti, L.1    Fracanzani, A.L.2    Dongiovanni, P.3
  • 124
    • 10644278813 scopus 로고    scopus 로고
    • Progression of liver fibrosis in women infected with hepatitis C: Long-term benefit of estrogen exposure
    • Di Martino V, Lebray P, Myers RP et al. Progression of liver fibrosis in women infected with hepatitis C: long-term benefit of estrogen exposure. Hepatology 40(6), 1426-1433 (2004).
    • (2004) Hepatology , vol.40 , Issue.6 , pp. 1426-1433
    • Di Martino, V.1    Lebray, P.2    Myers, R.P.3
  • 125
    • 0026732182 scopus 로고
    • Liver fibrosis in genetic hemochromatosis. Respective roles of iron and non-iron-related factors in 127 homozygous patients
    • Loréal O, Deugnier Y, Moirand R et al. Liver fibrosis in genetic hemochromatosis. Respective roles of iron and non-iron-related factors in 127 homozygous patients. J. Hepatol. 16(1-2) 122-127 (1992).
    • (1992) J. Hepatol , vol.16 , Issue.1-2 , pp. 122-127
    • Loréal, O.1    Deugnier, Y.2    Moirand, R.3
  • 126
    • 0038207707 scopus 로고    scopus 로고
    • Impact of oestrogens on the progression of liver disease
    • Shimizu I. Impact of oestrogens on the progression of liver disease. Liver Int. 23(1), 63-69 (2003).
    • (2003) Liver Int , vol.23 , Issue.1 , pp. 63-69
    • Shimizu, I.1
  • 127
    • 21344463609 scopus 로고    scopus 로고
    • TGF-β1 codon 25 gene polymorphism is associated with cirrhosis in patients with hereditary hemochromatosis
    • Osterreicher CH, Datz C, Stickel F et al. TGF-β1 codon 25 gene polymorphism is associated with cirrhosis in patients with hereditary hemochromatosis. Cytokine 31(2), 142-148 (2005).
    • (2005) Cytokine , vol.31 , Issue.2 , pp. 142-148
    • Osterreicher, C.H.1    Datz, C.2    Stickel, F.3
  • 128
    • 0035877982 scopus 로고    scopus 로고
    • Tumor necrosis factor α promoter polymorphisms influence the phenotypic expression of hereditary hemochromatosis
    • Fargion S, Valenti L, Dongiovanni P et al. Tumor necrosis factor α promoter polymorphisms influence the phenotypic expression of hereditary hemochromatosis. Blood 97(12), 3707-3712 (2001).
    • (2001) Blood , vol.97 , Issue.12 , pp. 3707-3712
    • Fargion, S.1    Valenti, L.2    Dongiovanni, P.3
  • 129
    • 0042929566 scopus 로고    scopus 로고
    • Tumour necrosis factor α and its promoter polymorphisms' role in the phenotypic expression of hemochromatosis
    • Distante S, Elmberg M, Foss Haug KB et al. Tumour necrosis factor α and its promoter polymorphisms' role in the phenotypic expression of hemochromatosis. Scand. J. Gastroenterol. 38(8), 871-877 (2003).
    • (2003) Scand. J. Gastroenterol , vol.38 , Issue.8 , pp. 871-877
    • Distante, S.1    Elmberg, M.2    Foss Haug, K.B.3
  • 130
    • 0037105548 scopus 로고    scopus 로고
    • Tumor necrosis factor α promoter polymorphisms and liver abnormalities of homozygotes for the 845G>A(C282Y) hereditary hemochromatosis mutation. Letter
    • Beutler E, Gelbart T. Tumor necrosis factor α promoter polymorphisms and liver abnormalities of homozygotes for the 845G>A(C282Y) hereditary hemochromatosis mutation. Letter. Blood 100(6), 2268-2269 (2002).
    • (2002) Blood , vol.100 , Issue.6 , pp. 2268-2269
    • Beutler, E.1    Gelbart, T.2
  • 131
    • 0031883173 scopus 로고    scopus 로고
    • Increased expression of monocyte chemotactic protein-1 during active hepatic fibrogenesis: Correlation with monocyte infiltration
    • Marra F, DeFranco R, Grappone C et al. Increased expression of monocyte chemotactic protein-1 during active hepatic fibrogenesis: correlation with monocyte infiltration. Am. J. Pathol. 152(2), 423-430 (1998).
    • (1998) Am. J. Pathol , vol.152 , Issue.2 , pp. 423-430
    • Marra, F.1    DeFranco, R.2    Grappone, C.3
  • 132
    • 17144459376 scopus 로고    scopus 로고
    • A novel MCP-1 gene polymorphism is associated with hepatic MCP-1 expression and severity of HCV-related liver disease
    • Mühlbauer M, Bosserhoff AK, Hartmann A et al. A novel MCP-1 gene polymorphism is associated with hepatic MCP-1 expression and severity of HCV-related liver disease. Gastroenterology 125(4), 1085-1093 (2003).
    • (2003) Gastroenterology , vol.125 , Issue.4 , pp. 1085-1093
    • Mühlbauer, M.1    Bosserhoff, A.K.2    Hartmann, A.3
  • 133
    • 25144486612 scopus 로고    scopus 로고
    • Prediction of progression to cirrhosis by a glutathione S-transferase P1 polymorphism in subjects with hereditary hemochromatosis
    • Stickel F, Osterreicher CH, Datz C et al. Prediction of progression to cirrhosis by a glutathione S-transferase P1 polymorphism in subjects with hereditary hemochromatosis. Arch. Intern. Med. 165(16), 1835-1840 (2005).
    • (2005) Arch. Intern. Med , vol.165 , Issue.16 , pp. 1835-1840
    • Stickel, F.1    Osterreicher, C.H.2    Datz, C.3
  • 134
    • 21044448206 scopus 로고    scopus 로고
    • Association of myeloperoxidase promotor polymorphism with cirrhosis in patients with hereditary hemochromatosis
    • Osterreicher CH, Datz C, Stickel F et al. Association of myeloperoxidase promotor polymorphism with cirrhosis in patients with hereditary hemochromatosis. J. Hepatol. 42(6), 914-919 (2005).
    • (2005) J. Hepatol , vol.42 , Issue.6 , pp. 914-919
    • Osterreicher, C.H.1    Datz, C.2    Stickel, F.3
  • 135
    • 19944401844 scopus 로고    scopus 로고
    • The mitochondrial superoxide dismutase A16V polymorphism in the cardiomyopathy associated with hereditary haemochromatosis
    • Valenti L, Conte D, Piperno A et al. The mitochondrial superoxide dismutase A16V polymorphism in the cardiomyopathy associated with hereditary haemochromatosis. J. Med. Genet. 41, 946-950 (2004).
    • (2004) J. Med. Genet , vol.41 , pp. 946-950
    • Valenti, L.1    Conte, D.2    Piperno, A.3
  • 136
    • 0034707120 scopus 로고    scopus 로고
    • Disease-related conditions in relatives of patients with hemochromatosis
    • Bulaj ZJ, Ajioka RS, Phillips JD et al. Disease-related conditions in relatives of patients with hemochromatosis. N. Engl. J. Med. 343(21), 1529-1535 (2000).
    • (2000) N. Engl. J. Med , vol.343 , Issue.21 , pp. 1529-1535
    • Bulaj, Z.J.1    Ajioka, R.S.2    Phillips, J.D.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.