메뉴 건너뛰기




Volumn 23, Issue 2, 2009, Pages 171-183

Hereditary haemochromatosis

Author keywords

diagnosis; ferritin; hereditary haemochromatosis; screening

Indexed keywords

CALCIUM CHANNEL BLOCKING AGENT; DEFERASIROX; DEFERIPRONE; FERRITIN; HEPCIDIN; HFE PROTEIN; PROTON PUMP INHIBITOR;

EID: 65349116544     PISSN: 15216918     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bpg.2009.02.004     Document Type: Article
Times cited : (40)

References (83)
  • 2
    • 36549053552 scopus 로고    scopus 로고
    • Haemochromatosis
    • Adams P.C., and Barton J.C. Haemochromatosis. Lancet 370 9602 (2007 Dec 1) 1855-1860
    • (2007) Lancet , vol.370 , Issue.9602 , pp. 1855-1860
    • Adams, P.C.1    Barton, J.C.2
  • 3
    • 0029913626 scopus 로고    scopus 로고
    • Long-term survival in patients with hereditary hemochromatosis
    • Niederau C., Fischer R., Purschel A., et al. Long-term survival in patients with hereditary hemochromatosis. Gastroenterology 110 4 (1996 Apr) 1107-1119
    • (1996) Gastroenterology , vol.110 , Issue.4 , pp. 1107-1119
    • Niederau, C.1    Fischer, R.2    Purschel, A.3
  • 4
    • 9344224529 scopus 로고    scopus 로고
    • A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis
    • Feder J.N., Gnirke A., Thomas W., et al. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet 13 4 (1996 Aug) 399-408
    • (1996) Nat Genet , vol.13 , Issue.4 , pp. 399-408
    • Feder, J.N.1    Gnirke, A.2    Thomas, W.3
  • 5
    • 0032716978 scopus 로고    scopus 로고
    • The hereditary hemochromatosis gene (HFE): a MHC class I-like gene that functions in the regulation of iron homeostasis
    • Feder J.N. The hereditary hemochromatosis gene (HFE): a MHC class I-like gene that functions in the regulation of iron homeostasis. Immunol Res 20 2 (1999) 175-185
    • (1999) Immunol Res , vol.20 , Issue.2 , pp. 175-185
    • Feder, J.N.1
  • 6
    • 33646899011 scopus 로고    scopus 로고
    • Hereditary hemochromatosis: genetic complexity and new diagnostic approaches
    • Swinkels D.W., Janssen M.C., Bergmans J., et al. Hereditary hemochromatosis: genetic complexity and new diagnostic approaches. Clin Chem 52 6 (2006 Jun) 950-968
    • (2006) Clin Chem , vol.52 , Issue.6 , pp. 950-968
    • Swinkels, D.W.1    Janssen, M.C.2    Bergmans, J.3
  • 7
    • 51549106718 scopus 로고    scopus 로고
    • Hereditary hemochromatosis in the post-HFE era
    • Olynyk J.K., Trinder D., Ramm G.A., et al. Hereditary hemochromatosis in the post-HFE era. Hepatology 48 3 (2008 Sep) 991-1001
    • (2008) Hepatology , vol.48 , Issue.3 , pp. 991-1001
    • Olynyk, J.K.1    Trinder, D.2    Ramm, G.A.3
  • 8
    • 0012994611 scopus 로고    scopus 로고
    • Hepcidin, a new iron regulatory peptide
    • Nicolas G., Viatte L., Bennoun M., et al. Hepcidin, a new iron regulatory peptide. Blood Cells Mol Dis 29 3 (2002 Nov) 327-335
    • (2002) Blood Cells Mol Dis , vol.29 , Issue.3 , pp. 327-335
    • Nicolas, G.1    Viatte, L.2    Bennoun, M.3
  • 9
    • 0037460697 scopus 로고    scopus 로고
    • Disrupted hepcidin regulation in HFE-associated haemochromatosis and the liver as a regulator of body iron homoeostasis
    • Bridle K.R., Frazer D.M., Wilkins S.J., et al. Disrupted hepcidin regulation in HFE-associated haemochromatosis and the liver as a regulator of body iron homoeostasis. Lancet 361 9358 (2003 Feb 22) 669-673
    • (2003) Lancet , vol.361 , Issue.9358 , pp. 669-673
    • Bridle, K.R.1    Frazer, D.M.2    Wilkins, S.J.3
  • 10
    • 38549136843 scopus 로고    scopus 로고
    • Hepcidin: from discovery to differential diagnosis
    • Kemna E.H., Tjalsma H., Willems H.L., et al. Hepcidin: from discovery to differential diagnosis. Haematologica 93 1 (2008 Jan) 90-97
    • (2008) Haematologica , vol.93 , Issue.1 , pp. 90-97
    • Kemna, E.H.1    Tjalsma, H.2    Willems, H.L.3
  • 11
    • 37049024131 scopus 로고    scopus 로고
    • Blunted hepcidin response to oral iron challenge in HFE-related hemochromatosis
    • Piperno A., Girelli D., Nemeth E., et al. Blunted hepcidin response to oral iron challenge in HFE-related hemochromatosis. Blood 110 12 (2007 Dec 1) 4096-4100
    • (2007) Blood , vol.110 , Issue.12 , pp. 4096-4100
    • Piperno, A.1    Girelli, D.2    Nemeth, E.3
  • 12
    • 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 7 (2002 Oct) 1037-1044
    • (2002) J Clin Invest , vol.110 , Issue.7 , pp. 1037-1044
    • Nicolas, G.1    Chauvet, C.2    Viatte, L.3
  • 13
    • 33845245942 scopus 로고    scopus 로고
    • Suppression of hepcidin during anemia requires erythropoietic activity
    • Pak M., Lopez M.A., Gabayan V., et al. Suppression of hepcidin during anemia requires erythropoietic activity. Blood 108 12 (2006 Dec 1) 3730-3735
    • (2006) Blood , vol.108 , Issue.12 , pp. 3730-3735
    • Pak, M.1    Lopez, M.A.2    Gabayan, V.3
  • 14
    • 10844258104 scopus 로고    scopus 로고
    • Hepcidin regulates cellular iron efflux by binding to ferroportin and inducing its internalization
    • Nemeth E., Tuttle M.S., Powelson J., et al. Hepcidin regulates cellular iron efflux by binding to ferroportin and inducing its internalization. Science 306 5704 (2004 Dec 17) 2090-2093
    • (2004) Science , vol.306 , Issue.5704 , pp. 2090-2093
    • Nemeth, E.1    Tuttle, M.S.2    Powelson, J.3
  • 15
    • 0038312385 scopus 로고    scopus 로고
    • Decreased liver hepcidin expression in the Hfe knockout mouse
    • Ahmad K.A., Ahmann J.R., Migas M.C., et al. Decreased liver hepcidin expression in the Hfe knockout mouse. Blood Cells Mol Dis 29 3 (2002 Nov) 361-366
    • (2002) Blood Cells Mol Dis , vol.29 , Issue.3 , pp. 361-366
    • Ahmad, K.A.1    Ahmann, J.R.2    Migas, M.C.3
  • 16
    • 50049109451 scopus 로고    scopus 로고
    • Serum hepcidin levels are innately low in HFE-related haemochromatosis but differ between C282Y-homozygotes with elevated and normal ferritin levels
    • van Dijk B.A., Laarakkers C.M., Klaver S.M., et al. Serum hepcidin levels are innately low in HFE-related haemochromatosis but differ between C282Y-homozygotes with elevated and normal ferritin levels. Br J Haematol 142 6 (2008 Sep) 979-985
    • (2008) Br J Haematol , vol.142 , Issue.6 , pp. 979-985
    • van Dijk, B.A.1    Laarakkers, C.M.2    Klaver, S.M.3
  • 17
    • 0027437209 scopus 로고
    • The centennial of the Fenton reaction
    • Koppenol W.H. The centennial of the Fenton reaction. Free Radic Biol Med 15 6 (1993 Dec) 645-651
    • (1993) Free Radic Biol Med , vol.15 , Issue.6 , pp. 645-651
    • Koppenol, W.H.1
  • 18
    • 0034793688 scopus 로고    scopus 로고
    • The Haber-Weiss cycle-70 years later
    • Koppenol W.H. The Haber-Weiss cycle-70 years later. Redox Rep 6 4 (2001) 229-234
    • (2001) Redox Rep , vol.6 , Issue.4 , pp. 229-234
    • Koppenol, W.H.1
  • 19
    • 33747359666 scopus 로고    scopus 로고
    • Alcohol metabolism-mediated oxidative stress down-regulates hepcidin transcription and leads to increased duodenal iron transporter expression
    • Harrison-Findik D.D., 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 32 (2006 Aug 11) 22974-22982
    • (2006) J Biol Chem , vol.281 , Issue.32 , pp. 22974-22982
    • Harrison-Findik, D.D.1    Schafer, D.2    Klein, E.3
  • 20
    • 47149091490 scopus 로고    scopus 로고
    • Environmental and genetic modifiers of the progression to fibrosis and cirrhosis in hemochromatosis
    • Wood M.J., Powell L.W., and Ramm G.A. Environmental and genetic modifiers of the progression to fibrosis and cirrhosis in hemochromatosis. Blood 111 9 (2008 May 1) 4456-4462
    • (2008) Blood , vol.111 , Issue.9 , pp. 4456-4462
    • Wood, M.J.1    Powell, L.W.2    Ramm, G.A.3
  • 21
    • 0025877002 scopus 로고
    • Clinical presentation of hemochromatosis: a changing scene
    • Adams P.C., Kertesz A.E., and Valberg L.S. Clinical presentation of hemochromatosis: a changing scene. Am J Med 90 4 (1991 Apr) 445-449
    • (1991) Am J Med , vol.90 , Issue.4 , pp. 445-449
    • Adams, P.C.1    Kertesz, A.E.2    Valberg, L.S.3
  • 22
    • 0031030733 scopus 로고    scopus 로고
    • The relationship between iron overload, clinical symptoms, and age in 410 patients with genetic hemochromatosis
    • Adams P.C., Deugnier Y., Moirand R., et al. The relationship between iron overload, clinical symptoms, and age in 410 patients with genetic hemochromatosis. Hepatology 25 1 (1997 Jan) 162-166
    • (1997) Hepatology , vol.25 , Issue.1 , pp. 162-166
    • Adams, P.C.1    Deugnier, Y.2    Moirand, R.3
  • 23
    • 0030957346 scopus 로고    scopus 로고
    • Hereditary hemochromatosis: presentation and diagnosis in the 1990s
    • Bacon B.R., and Sadiq S.A. Hereditary hemochromatosis: presentation and diagnosis in the 1990s. Am J Gastroenterol 92 5 (1997 May) 784-789
    • (1997) Am J Gastroenterol , vol.92 , Issue.5 , pp. 784-789
    • Bacon, B.R.1    Sadiq, S.A.2
  • 24
    • 10744232491 scopus 로고    scopus 로고
    • Cancer risk in patients with hereditary hemochromatosis and in their first-degree relatives
    • Elmberg M., Hultcrantz R., Ekbom A., et al. Cancer risk in patients with hereditary hemochromatosis and in their first-degree relatives. Gastroenterology 125 6 (2003 Dec) 1733-1741
    • (2003) Gastroenterology , vol.125 , Issue.6 , pp. 1733-1741
    • Elmberg, M.1    Hultcrantz, R.2    Ekbom, A.3
  • 25
    • 0033039405 scopus 로고    scopus 로고
    • A survey of 2851 patients with hemochromatosis: symptoms and response to treatment
    • McDonnell S.M., Preston B.L., Jewell S.A., et al. A survey of 2851 patients with hemochromatosis: symptoms and response to treatment. Am J Med 106 6 (1999 Jun) 619-624
    • (1999) Am J Med , vol.106 , Issue.6 , pp. 619-624
    • McDonnell, S.M.1    Preston, B.L.2    Jewell, S.A.3
  • 26
    • 17844410928 scopus 로고    scopus 로고
    • Hypogonadism in hereditary hemochromatosis
    • McDermott J.H., and Walsh C.H. Hypogonadism in hereditary hemochromatosis. J Clin Endocrinol Metab 90 4 (2005 Apr) 2451-2455
    • (2005) J Clin Endocrinol Metab , vol.90 , Issue.4 , pp. 2451-2455
    • McDermott, J.H.1    Walsh, C.H.2
  • 27
    • 33746830877 scopus 로고    scopus 로고
    • Screening for hereditary hemochromatosis: a systematic review for the U.S. Preventive Services Task Force
    • Whitlock E.P., Garlitz B.A., Harris E.L., et al. Screening for hereditary hemochromatosis: a systematic review for the U.S. Preventive Services Task Force. Ann Intern Med 145 3 (2006 Aug 1) 209-223
    • (2006) Ann Intern Med , vol.145 , Issue.3 , pp. 209-223
    • Whitlock, E.P.1    Garlitz, B.A.2    Harris, E.L.3
  • 28
    • 38049017421 scopus 로고    scopus 로고
    • Synopsis of the Dutch multidisciplinary guideline for the diagnosis and treatment of hereditary haemochromatosis
    • Swinkels D.W., Jorna A.T., and Raymakers R.A. Synopsis of the Dutch multidisciplinary guideline for the diagnosis and treatment of hereditary haemochromatosis. Neth J Med 65 11 (2007 Dec) 452-455
    • (2007) Neth J Med , vol.65 , Issue.11 , pp. 452-455
    • Swinkels, D.W.1    Jorna, A.T.2    Raymakers, R.A.3
  • 29
    • 25444467719 scopus 로고    scopus 로고
    • Screening for hereditary hemochromatosis: a clinical practice guideline from the American College of Physicians
    • Qaseem A., Aronson M., Fitterman N., et al. Screening for hereditary hemochromatosis: a clinical practice guideline from the American College of Physicians. Ann Intern Med 143 7 (2005 Oct 4) 517-521
    • (2005) Ann Intern Med , vol.143 , Issue.7 , pp. 517-521
    • Qaseem, A.1    Aronson, M.2    Fitterman, N.3
  • 30
    • 25444500981 scopus 로고    scopus 로고
    • Screening primary care patients for hereditary hemochromatosis with transferrin saturation and serum ferritin level: systematic review for the American College of Physicians
    • Schmitt B., Golub R.M., and Green R. Screening primary care patients for hereditary hemochromatosis with transferrin saturation and serum ferritin level: systematic review for the American College of Physicians. Ann Intern Med 143 7 (2005 Oct 4) 522-536
    • (2005) Ann Intern Med , vol.143 , Issue.7 , pp. 522-536
    • Schmitt, B.1    Golub, R.M.2    Green, R.3
  • 31
    • 0035038147 scopus 로고    scopus 로고
    • Diagnosis and management of hemochromatosis
    • Tavill A.S. Diagnosis and management of hemochromatosis. Hepatology 33 5 (2001 May) 1321-1328
    • (2001) Hepatology , vol.33 , Issue.5 , pp. 1321-1328
    • Tavill, A.S.1
  • 32
    • 34848886872 scopus 로고    scopus 로고
    • Role of alcohol in the regulation of iron metabolism
    • Harrison-Findik D.D. Role of alcohol in the regulation of iron metabolism. World J Gastroenterol 13 37 (2007 Oct 7) 4925-4930
    • (2007) World J Gastroenterol , vol.13 , Issue.37 , pp. 4925-4930
    • Harrison-Findik, D.D.1
  • 33
    • 0032692722 scopus 로고    scopus 로고
    • Insulin resistance-associated hepatic iron overload
    • Mendler M.H., Turlin B., Moirand R., et al. Insulin resistance-associated hepatic iron overload. Gastroenterology 117 5 (1999 Nov) 1155-1163
    • (1999) Gastroenterology , vol.117 , Issue.5 , pp. 1155-1163
    • Mendler, M.H.1    Turlin, B.2    Moirand, R.3
  • 34
    • 33645553357 scopus 로고    scopus 로고
    • Hereditary hyperferritinemia cataract syndrome: ocular, genetic, and biochemical findings
    • Ismail A.R., Lachlan K.L., Mumford A.D., et al. Hereditary hyperferritinemia cataract syndrome: ocular, genetic, and biochemical findings. Eur J Ophthalmol 16 1 (2006 Jan) 153-160
    • (2006) Eur J Ophthalmol , vol.16 , Issue.1 , pp. 153-160
    • Ismail, A.R.1    Lachlan, K.L.2    Mumford, A.D.3
  • 35
    • 0035725363 scopus 로고    scopus 로고
    • Clinical, biochemical and molecular findings in a series of families with hereditary hyperferritinaemia-cataract syndrome
    • Girelli D., Bozzini C., Zecchina G., et al. Clinical, biochemical and molecular findings in a series of families with hereditary hyperferritinaemia-cataract syndrome. Br J Haematol 115 2 (2001 Nov) 334-340
    • (2001) Br J Haematol , vol.115 , Issue.2 , pp. 334-340
    • Girelli, D.1    Bozzini, C.2    Zecchina, G.3
  • 36
    • 0031889806 scopus 로고    scopus 로고
    • Understanding iron absorption and metabolism, aided by studies of hemochromatosis
    • Roeckel I.E., and Dickson L.G. Understanding iron absorption and metabolism, aided by studies of hemochromatosis. Ann Clin Lab Sci 28 1 (1998 Jan) 30-33
    • (1998) Ann Clin Lab Sci , vol.28 , Issue.1 , pp. 30-33
    • Roeckel, I.E.1    Dickson, L.G.2
  • 38
    • 34648836734 scopus 로고    scopus 로고
    • Pathology of hepatic iron overload
    • Deugnier Y., and Turlin B. Pathology of hepatic iron overload. World J Gastroenterol 13 35 (2007 Sep 21) 4755-4760
    • (2007) World J Gastroenterol , vol.13 , Issue.35 , pp. 4755-4760
    • Deugnier, Y.1    Turlin, B.2
  • 39
    • 33747042226 scopus 로고    scopus 로고
    • Reversibility of hepatic fibrosis in treated genetic hemochromatosis: a study of 36 cases
    • Falize L., Guillygomarc'h A., Perrin M., et al. Reversibility of hepatic fibrosis in treated genetic hemochromatosis: a study of 36 cases. Hepatology 44 2 (2006 Aug) 472-477
    • (2006) Hepatology , vol.44 , Issue.2 , pp. 472-477
    • Falize, L.1    Guillygomarc'h, A.2    Perrin, M.3
  • 40
    • 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 9406 (2004 Jan 31) 357-362
    • (2004) Lancet , vol.363 , Issue.9406 , pp. 357-362
    • Gandon, Y.1    Olivie, D.2    Guyader, D.3
  • 41
    • 18944401001 scopus 로고    scopus 로고
    • Non-invasive assessment of hepatic iron overload: are we finally there?
    • Pietrangelo A. Non-invasive assessment of hepatic iron overload: are we finally there?. J Hepatol 42 1 (2005 Jan) 153-154
    • (2005) J Hepatol , vol.42 , Issue.1 , pp. 153-154
    • Pietrangelo, A.1
  • 42
    • 0026783157 scopus 로고
    • Magnetic resonance imaging and assessment of liver iron content in genetic hemochromatosis
    • Guyader D., Gandon Y., Robert J.Y., et al. Magnetic resonance imaging and assessment of liver iron content in genetic hemochromatosis. J Hepatol 15 3 (1992 Jul) 304-308
    • (1992) J Hepatol , vol.15 , Issue.3 , pp. 304-308
    • Guyader, D.1    Gandon, Y.2    Robert, J.Y.3
  • 43
    • 11244355277 scopus 로고    scopus 로고
    • Noninvasive measurement and imaging of liver iron concentrations using proton magnetic resonance
    • St Pierre T.G., Clark P.R., Chua-Anusorn W., et al. Noninvasive measurement and imaging of liver iron concentrations using proton magnetic resonance. Blood 105 2 (2005 Jan 15) 855-861
    • (2005) Blood , vol.105 , Issue.2 , pp. 855-861
    • St Pierre, T.G.1    Clark, P.R.2    Chua-Anusorn, W.3
  • 44
    • 33750807058 scopus 로고    scopus 로고
    • Magnetic resonance imaging to identify classic and nonclassic forms of ferroportin disease
    • Pietrangelo A., Corradini E., Ferrara F., et al. Magnetic resonance imaging to identify classic and nonclassic forms of ferroportin disease. Blood Cells Mol Dis 37 3 (2006 Nov) 192-196
    • (2006) Blood Cells Mol Dis , vol.37 , Issue.3 , pp. 192-196
    • Pietrangelo, A.1    Corradini, E.2    Ferrara, F.3
  • 45
    • 43049162487 scopus 로고    scopus 로고
    • Diagnosis of liver fibrosis using FibroScan and other noninvasive methods in patients with hemochromatosis: a prospective study
    • Adhoute X., Foucher J., Laharie D., et al. Diagnosis of liver fibrosis using FibroScan and other noninvasive methods in patients with hemochromatosis: a prospective study. Gastroenterol Clin Biol 32 2 (2008 Feb) 180-187
    • (2008) Gastroenterol Clin Biol , vol.32 , Issue.2 , pp. 180-187
    • Adhoute, X.1    Foucher, J.2    Laharie, D.3
  • 46
    • 33750942378 scopus 로고    scopus 로고
    • Noninvasive diagnosis of liver fibrosis by ultrasonic transient elastography (Fibroscan)
    • Nguyen-Khac E., and Capron D. Noninvasive diagnosis of liver fibrosis by ultrasonic transient elastography (Fibroscan). Eur J Gastroenterol Hepatol 18 12 (2006 Dec) 1321-1325
    • (2006) Eur J Gastroenterol Hepatol , vol.18 , Issue.12 , pp. 1321-1325
    • Nguyen-Khac, E.1    Capron, D.2
  • 47
    • 0036334675 scopus 로고    scopus 로고
    • Natural history of C282Y homozygotes for hemochromatosis
    • Wojcik J.P., Speechley M.R., Kertesz A.E., et al. Natural history of C282Y homozygotes for hemochromatosis. Can J Gastroenterol 16 5 (2002 May) 297-302
    • (2002) Can J Gastroenterol , vol.16 , Issue.5 , pp. 297-302
    • Wojcik, J.P.1    Speechley, M.R.2    Kertesz, A.E.3
  • 48
    • 36849080872 scopus 로고    scopus 로고
    • Diagnosis and current treatments for primary iron overload
    • Brissot P. Diagnosis and current treatments for primary iron overload. Am J Hematol 82 12 Suppl. (2007 Dec) 1140-1141
    • (2007) Am J Hematol , vol.82 , Issue.12 SUPPL , pp. 1140-1141
    • Brissot, P.1
  • 49
    • 41949142172 scopus 로고    scopus 로고
    • Measurement of urinary hepcidin levels by SELDI-TOF-MS in HFE-hemochromatosis
    • Bozzini C., Campostrini N., Trombini P., et al. Measurement of urinary hepcidin levels by SELDI-TOF-MS in HFE-hemochromatosis. Blood Cells Mol Dis 40 3 (2008 May) 347-352
    • (2008) Blood Cells Mol Dis , vol.40 , Issue.3 , pp. 347-352
    • Bozzini, C.1    Campostrini, N.2    Trombini, P.3
  • 50
    • 0036319989 scopus 로고    scopus 로고
    • In hereditary hemochromatosis, red cell apheresis removes excess iron twice as fast as manual whole blood phlebotomy
    • Muncunill J., Vaquer P., Galmes A., et al. In hereditary hemochromatosis, red cell apheresis removes excess iron twice as fast as manual whole blood phlebotomy. J Clin Apher 17 2 (2002) 88-92
    • (2002) J Clin Apher , vol.17 , Issue.2 , pp. 88-92
    • Muncunill, J.1    Vaquer, P.2    Galmes, A.3
  • 51
    • 20344383003 scopus 로고    scopus 로고
    • Erythrocytapheresis plus erythropoietin: an alternative therapy for selected patients with hemochromatosis and severe organ damage
    • Mariani R., Pelucchi S., Perseghin P., et al. Erythrocytapheresis plus erythropoietin: an alternative therapy for selected patients with hemochromatosis and severe organ damage. Haematologica 90 5 (2005 May) 717-718
    • (2005) Haematologica , vol.90 , Issue.5 , pp. 717-718
    • Mariani, R.1    Pelucchi, S.2    Perseghin, P.3
  • 52
    • 42949148046 scopus 로고    scopus 로고
    • Clinical application of deferasirox: practical patient management
    • Vichinsky E. Clinical application of deferasirox: practical patient management. Am J Hematol 83 5 (2008 May) 398-402
    • (2008) Am J Hematol , vol.83 , Issue.5 , pp. 398-402
    • Vichinsky, E.1
  • 53
    • 33947697200 scopus 로고    scopus 로고
    • Chelation therapy for iron overload
    • Barton J.C. Chelation therapy for iron overload. Curr Gastroenterol Rep 9 1 (2007 Mar) 74-82
    • (2007) Curr Gastroenterol Rep , vol.9 , Issue.1 , pp. 74-82
    • Barton, J.C.1
  • 54
    • 40149101277 scopus 로고    scopus 로고
    • Iron overload disorders: treatment options for patients refractory to or intolerant of phlebotomy
    • Bring P., Partovi N., Ford J.A., et al. Iron overload disorders: treatment options for patients refractory to or intolerant of phlebotomy. Pharmacotherapy 28 3 (2008 Mar) 331-342
    • (2008) Pharmacotherapy , vol.28 , Issue.3 , pp. 331-342
    • Bring, P.1    Partovi, N.2    Ford, J.A.3
  • 55
    • 34548127058 scopus 로고    scopus 로고
    • Proton pump inhibitors suppress absorption of dietary non-haem iron in hereditary haemochromatosis
    • Hutchinson C., Geissler C.A., Powell J.J., et al. Proton pump inhibitors suppress absorption of dietary non-haem iron in hereditary haemochromatosis. Gut 56 9 (2007 Sep) 1291-1295
    • (2007) Gut , vol.56 , Issue.9 , pp. 1291-1295
    • Hutchinson, C.1    Geissler, C.A.2    Powell, J.J.3
  • 56
    • 41349111434 scopus 로고    scopus 로고
    • Post-prandial iron absorption in humans: comparison between HFE genotypes and iron deficiency anaemia
    • Hutchinson C., Conway R.E., Bomford A., et al. Post-prandial iron absorption in humans: comparison between HFE genotypes and iron deficiency anaemia. Clin Nutr 27 2 (2008 Apr) 258-263
    • (2008) Clin Nutr , vol.27 , Issue.2 , pp. 258-263
    • Hutchinson, C.1    Conway, R.E.2    Bomford, A.3
  • 57
    • 34147145982 scopus 로고    scopus 로고
    • Ca2+ channel blockers reverse iron overload by a new mechanism via divalent metal transporter-1
    • Ludwiczek S., Theurl I., Muckenthaler M.U., et al. Ca2+ channel blockers reverse iron overload by a new mechanism via divalent metal transporter-1. Nat Med 13 4 (2007 Apr) 448-454
    • (2007) Nat Med , vol.13 , Issue.4 , pp. 448-454
    • Ludwiczek, S.1    Theurl, I.2    Muckenthaler, M.U.3
  • 58
    • 2542560427 scopus 로고    scopus 로고
    • Hereditary hemochromatosis-a new look at an old disease
    • Pietrangelo A. Hereditary hemochromatosis-a new look at an old disease. N Engl J Med 350 23 (2004 Jun 3) 2383-2397
    • (2004) N Engl J Med , vol.350 , Issue.23 , pp. 2383-2397
    • Pietrangelo, A.1
  • 60
    • 41949092301 scopus 로고    scopus 로고
    • A novel (Leu183Pro-)mutation in the HFE-gene co-inherited with the Cys282Tyr mutation in two unrelated Dutch hemochromatosis patients
    • Swinkels D.W., Venselaar H., Wiegerinck E.T., et al. A novel (Leu183Pro-)mutation in the HFE-gene co-inherited with the Cys282Tyr mutation in two unrelated Dutch hemochromatosis patients. Blood Cells Mol Dis 40 3 (2008 May) 334-338
    • (2008) Blood Cells Mol Dis , vol.40 , Issue.3 , pp. 334-338
    • Swinkels, D.W.1    Venselaar, H.2    Wiegerinck, E.T.3
  • 61
    • 9144252017 scopus 로고    scopus 로고
    • Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis
    • Papanikolaou G., Samuels M.E., Ludwig E.H., et al. Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis. Nat Genet 36 1 (2004 Jan) 77-82
    • (2004) Nat Genet , vol.36 , Issue.1 , pp. 77-82
    • Papanikolaou, G.1    Samuels, M.E.2    Ludwig, E.H.3
  • 62
    • 1642380179 scopus 로고    scopus 로고
    • Is genetic screening for hemochromatosis worthwhile?
    • Njajou O.T., Alizadeh B.Z., and van Duijn C.M. Is genetic screening for hemochromatosis worthwhile?. Eur J Epidemiol 19 2 (2004) 101-108
    • (2004) Eur J Epidemiol , vol.19 , Issue.2 , pp. 101-108
    • Njajou, O.T.1    Alizadeh, B.Z.2    van Duijn, C.M.3
  • 63
    • 23044508432 scopus 로고    scopus 로고
    • Resistance to hepcidin is conferred by hemochromatosis-associated mutations of ferroportin
    • Drakesmith H., Schimanski L.M., Ormerod E., et al. Resistance to hepcidin is conferred by hemochromatosis-associated mutations of ferroportin. Blood 106 3 (2005 Aug 1) 1092-1097
    • (2005) Blood , vol.106 , Issue.3 , pp. 1092-1097
    • Drakesmith, H.1    Schimanski, L.M.2    Ormerod, E.3
  • 64
    • 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 69 1 (2001 Jul) 191-197
    • (2001) Am J Hum Genet , vol.69 , Issue.1 , pp. 191-197
    • Kato, J.1    Fujikawa, K.2    Kanda, M.3
  • 65
    • 42149087107 scopus 로고    scopus 로고
    • The biochemical and clinical penetrance of individuals diagnosed with genetic haemochromatosis by predictive genetic testing
    • Watkins S., Thorburn D., Joshi N., et al. The biochemical and clinical penetrance of individuals diagnosed with genetic haemochromatosis by predictive genetic testing. Eur J Gastroenterol Hepatol 20 5 (2008 May) 379-383
    • (2008) Eur J Gastroenterol Hepatol , vol.20 , Issue.5 , pp. 379-383
    • Watkins, S.1    Thorburn, D.2    Joshi, N.3
  • 66
    • 0038542813 scopus 로고    scopus 로고
    • The HFE Cys282Tyr mutation as a necessary but not sufficient cause of clinical hereditary hemochromatosis
    • Beutler E. The HFE Cys282Tyr mutation as a necessary but not sufficient cause of clinical hereditary hemochromatosis. Blood 101 9 (2003 May 1) 3347-3350
    • (2003) Blood , vol.101 , Issue.9 , pp. 3347-3350
    • Beutler, E.1
  • 67
    • 1842579593 scopus 로고    scopus 로고
    • Hemochromatosis mutations in the general population: iron overload progression rate
    • Andersen R.V., Tybjaerg-Hansen A., Appleyard M., et al. Hemochromatosis mutations in the general population: iron overload progression rate. Blood 103 8 (2004 Apr 15) 2914-2919
    • (2004) Blood , vol.103 , Issue.8 , pp. 2914-2919
    • Andersen, R.V.1    Tybjaerg-Hansen, A.2    Appleyard, M.3
  • 68
    • 53449101726 scopus 로고    scopus 로고
    • Serial serum ferritin measurements in untreated HFE C282Y homozygotes in the Hemochromatosis and Iron Overload Screening Study
    • Adams P.C., Reboussin D.M., Barton J.C., et al. Serial serum ferritin measurements in untreated HFE C282Y homozygotes in the Hemochromatosis and Iron Overload Screening Study. Int J Lab Hematol 30 4 (2008 Aug) 300-305
    • (2008) Int J Lab Hematol , vol.30 , Issue.4 , pp. 300-305
    • Adams, P.C.1    Reboussin, D.M.2    Barton, J.C.3
  • 69
    • 14544303567 scopus 로고    scopus 로고
    • Role of early case detection by screening relatives of patients with HFE-associated hereditary haemochromatosis
    • Powell L.W., Dixon J.L., and Hewett D.G. Role of early case detection by screening relatives of patients with HFE-associated hereditary haemochromatosis. Best Pract Res Clin Haematol 18 2 (2005 Jun) 221-234
    • (2005) Best Pract Res Clin Haematol , vol.18 , Issue.2 , pp. 221-234
    • Powell, L.W.1    Dixon, J.L.2    Hewett, D.G.3
  • 70
    • 33847075085 scopus 로고    scopus 로고
    • The penetrance of hemochromatosis: mice to the rescue
    • Pietrangelo A. The penetrance of hemochromatosis: mice to the rescue. Gastroenterology 132 2 (2007 Feb) 805-808
    • (2007) Gastroenterology , vol.132 , Issue.2 , pp. 805-808
    • Pietrangelo, A.1
  • 71
    • 57249103568 scopus 로고    scopus 로고
    • The natural history of serum iron indices for HFE C282Y homozygosity associated with hereditary hemochromatosis
    • Gurrin L.C., Osborne N.J., Constantine C.C., et al. The natural history of serum iron indices for HFE C282Y homozygosity associated with hereditary hemochromatosis. Gastroenterology 135 6 (2008 Sep 13) 1945-1952
    • (2008) Gastroenterology , vol.135 , Issue.6 , pp. 1945-1952
    • Gurrin, L.C.1    Osborne, N.J.2    Constantine, C.C.3
  • 72
    • 38349079861 scopus 로고    scopus 로고
    • Iron-overload-related disease in HFE hereditary hemochromatosis
    • Allen K.J., Gurrin L.C., Constantine C.C., et al. Iron-overload-related disease in HFE hereditary hemochromatosis. N Engl J Med 358 3 (2008 Jan 17) 221-230
    • (2008) N Engl J Med , vol.358 , Issue.3 , pp. 221-230
    • Allen, K.J.1    Gurrin, L.C.2    Constantine, C.C.3
  • 73
    • 36349010904 scopus 로고    scopus 로고
    • Hemochromatosis genotypes and risk of 31 disease endpoints: meta-analyses including 66,000 cases and 226,000 controls
    • Ellervik C., Birgens H., Tybjaerg-Hansen A., et al. Hemochromatosis genotypes and risk of 31 disease endpoints: meta-analyses including 66,000 cases and 226,000 controls. Hepatology 46 4 (2007 Oct) 1071-1080
    • (2007) Hepatology , vol.46 , Issue.4 , pp. 1071-1080
    • Ellervik, C.1    Birgens, H.2    Tybjaerg-Hansen, A.3
  • 74
    • 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 J.K., St Pierre T.G., Britton R.S., et al. 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 4 (2005 Apr) 837-841
    • (2005) Am J Gastroenterol , vol.100 , Issue.4 , pp. 837-841
    • Olynyk, J.K.1    St Pierre, T.G.2    Britton, R.S.3
  • 75
    • 0033517343 scopus 로고    scopus 로고
    • A population-based study of the clinical expression of the hemochromatosis gene
    • Olynyk J.K., Cullen D.J., Aquilia S., et al. A population-based study of the clinical expression of the hemochromatosis gene. N Engl J Med 341 10 (1999 Sep 2) 718-724
    • (1999) N Engl J Med , vol.341 , Issue.10 , pp. 718-724
    • Olynyk, J.K.1    Cullen, D.J.2    Aquilia, S.3
  • 76
    • 1442282237 scopus 로고    scopus 로고
    • Evolution of untreated hereditary hemochromatosis in the Busselton population: a 17-year study
    • Olynyk J.K., Hagan S.E., Cullen D.J., et al. Evolution of untreated hereditary hemochromatosis in the Busselton population: a 17-year study. Mayo Clin Proc 79 3 (2004 Mar) 309-313
    • (2004) Mayo Clin Proc , vol.79 , Issue.3 , pp. 309-313
    • Olynyk, J.K.1    Hagan, S.E.2    Cullen, D.J.3
  • 77
    • 0037132786 scopus 로고    scopus 로고
    • Penetrance of 845 G-> A (C282Y) HFE hereditary haemochromatosis mutation in the USA
    • Beutler E., Felitti V.J., Koziol J.A., et al. Penetrance of 845 G-> A (C282Y) HFE hereditary haemochromatosis mutation in the USA. Lancet 359 9302 (2002 Jan 19) 211-218
    • (2002) Lancet , vol.359 , Issue.9302 , pp. 211-218
    • Beutler, E.1    Felitti, V.J.2    Koziol, J.A.3
  • 78
    • 0031037009 scopus 로고    scopus 로고
    • Genetic irony beyond haemochromatosis: clinical effects of HLA-H mutations
    • Beutler E. Genetic irony beyond haemochromatosis: clinical effects of HLA-H mutations. Lancet 349 9048 (1997 Feb 1) 296-297
    • (1997) Lancet , vol.349 , Issue.9048 , pp. 296-297
    • Beutler, E.1
  • 79
    • 0033764751 scopus 로고    scopus 로고
    • Contribution of different HFE genotypes to iron overload disease: a pooled analysis
    • Burke W., Imperatore G., McDonnell S.M., et al. Contribution of different HFE genotypes to iron overload disease: a pooled analysis. Genet Med 2 5 (2000 Sep) 271-277
    • (2000) Genet Med , vol.2 , Issue.5 , pp. 271-277
    • Burke, W.1    Imperatore, G.2    McDonnell, S.M.3
  • 80
    • 0034949432 scopus 로고    scopus 로고
    • Hereditary hemochromatosis since discovery of the HFE gene
    • Lyon E., and Frank E.L. Hereditary hemochromatosis since discovery of the HFE gene. Clin Chem 47 7 (2001) 1147-1156
    • (2001) Clin Chem , vol.47 , Issue.7 , pp. 1147-1156
    • Lyon, E.1    Frank, E.L.2
  • 81
    • 12144250622 scopus 로고    scopus 로고
    • A 6-year survey of HFE gene test for hemochromatosis diagnosis
    • Mura C., Raguenes O., Scotet V., et al. A 6-year survey of HFE gene test for hemochromatosis diagnosis. Genet Med 7 1 (2005 Jan) 68-73
    • (2005) Genet Med , vol.7 , Issue.1 , pp. 68-73
    • Mura, C.1    Raguenes, O.2    Scotet, V.3
  • 82
    • 49849106357 scopus 로고    scopus 로고
    • Hereditary hemochromatosis: time for targeted screening
    • Phatak P.D., Bonkovsky H.L., and Kowdley K.V. Hereditary hemochromatosis: time for targeted screening. Ann Intern Med 149 4 (2008 Aug 19) 270-272
    • (2008) Ann Intern Med , vol.149 , Issue.4 , pp. 270-272
    • Phatak, P.D.1    Bonkovsky, H.L.2    Kowdley, K.V.3
  • 83
    • 33845545966 scopus 로고    scopus 로고
    • Hereditary hemochromatosis screening: effect of mutation penetrance and prevalence on cost-effectiveness of testing algorithms
    • 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 71 1 (2007 Jan) 46-58
    • (2007) Clin Genet , vol.71 , Issue.1 , pp. 46-58
    • Gagne, G.1    Reinharz, D.2    Laflamme, N.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.