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Volumn 30, Issue 1, 2003, Pages 27-36

Diagnosis of hereditary haemochromatosis using non-invasive methods

Author keywords

C282Y mutation; H63D; Hereditary haemochromatosis; HFE gene; Iron overload; Liver iron concentration; MRI; S65C; Serum ferritin; SQUID biosusceptometry

Indexed keywords

ASPARTIC ACID; FERRITIN; HISTIDINE; IRON;

EID: 0345491587     PISSN: 16603796     EISSN: None     Source Type: Journal    
DOI: 10.1159/000069342     Document Type: Review
Times cited : (5)

References (66)
  • 2
    • 0020035215 scopus 로고
    • Perspectives in iron metabolism
    • Finch C, Huebers H: Perspectives in iron metabolism. N Engl J Med 1982;306:1520-1528.
    • (1982) N Engl J Med , vol.306 , pp. 1520-1528
    • Finch, C.1    Huebers, H.2
  • 3
    • 0003049873 scopus 로고
    • The red cell cycle
    • Brock JH, Halliday JW, Pippard MJ, Powell L W (eds). London, Saunders
    • Brittenham GM: The red cell cycle; in Brock JH, Halliday JW, Pippard MJ, Powell L W (eds): Iron Metabolism in Health and Disease. London, Saunders, 1994;31-62.
    • (1994) Iron Metabolism in Health and Disease , pp. 31-62
    • Brittenham, G.M.1
  • 4
    • 0033599057 scopus 로고    scopus 로고
    • Disorders of iron metabolism
    • Andrews NC: Disorders of iron metabolism. N Engl J Med 1999;341:1986-1995.
    • (1999) N Engl J Med , vol.341 , pp. 1986-1995
    • Andrews, N.C.1
  • 8
    • 0033106390 scopus 로고    scopus 로고
    • Iron regulatory protein as an endogenous sensor of iron in rat intestinal mucosa: Possible implications for the regulation of iron absorption
    • Schümann K, Moret R, Kunzle H, Kuhn LC: Iron regulatory protein as an endogenous sensor of iron in rat intestinal mucosa: Possible implications for the regulation of iron absorption. Eur J Biochem 1999;260:362-372.
    • (1999) Eur J Biochem , vol.260 , pp. 362-372
    • Schümann, K.1    Moret, R.2    Kunzle, H.3    Kuhn, L.C.4
  • 9
    • 0028049495 scopus 로고
    • Regulators of iron balance in humans
    • Finch C: Regulators of iron balance in humans. Blood 1994;84:1697-1702.
    • (1994) Blood , vol.84 , pp. 1697-1702
    • Finch, C.1
  • 11
    • 0035896642 scopus 로고    scopus 로고
    • Hepcidin, a urinary antimircrobial peptide synthesized in the liver
    • Park CH, Valore EV, Waring AJ, Ganz T: Hepcidin, a urinary antimircrobial peptide synthesized in the liver. J Biol Chem 2001;276:7806-7810.
    • (2001) J Biol Chem , vol.276 , pp. 7806-7810
    • Park, C.H.1    Valore, E.V.2    Waring, A.J.3    Ganz, T.4
  • 12
    • 0035902605 scopus 로고    scopus 로고
    • Lack of hepcidin gene expression and severe tissue iron overload in upstream stimulatory factor 2 (USF2) knockout mice
    • Nicolas G, Bennoun M, Devaux I, Beaumont C, Grandchamp B, Kahn A, Vaulont S: Lack of hepcidin gene expression and severe tissue iron overload in upstream stimulatory factor 2 (USF2) knockout mice. Proc Natl Acad Sci USA 2001;98:8780-8785.
    • (2001) Proc Natl Acad Sci USA , vol.98 , pp. 8780-8785
    • Nicolas, G.1    Bennoun, M.2    Devaux, I.3    Beaumont, C.4    Grandchamp, B.5    Kahn, A.6    Vaulont, S.7
  • 13
    • 0031001278 scopus 로고    scopus 로고
    • Iron-chelating therapy and the treatment of thalassemia
    • Olivieri NF, Brittenham GM. Iron-chelating therapy and the treatment of thalassemia. Blood 1997;89:739-761.
    • (1997) Blood , vol.89 , pp. 739-761
    • Olivieri, N.F.1    Brittenham, G.M.2
  • 15
    • 2242475668 scopus 로고    scopus 로고
    • SQUID-Biosuszeptometrie bei Eisenüberladungserkrankungen in der Hämatologie
    • Nielsen P, Kordes U, Fischer R, Engelhardt R, Janke GE: SQUID-Biosuszeptometrie bei Eisenüberladungserkrankungen in der Hämatologie. Klin Pädiatr 2002;214:218-222.
    • (2002) Klin Pädiatr , vol.214 , pp. 218-222
    • Nielsen, P.1    Kordes, U.2    Fischer, R.3    Engelhardt, R.4    Janke, G.E.5
  • 17
  • 18
    • 0017688144 scopus 로고
    • Scordia C Heredity of idiopathic hemochromatosis: A study of 106 families
    • Simon M, Alexandre JL, Bourel M, LeMarec B, Scordia C Heredity of idiopathic hemochromatosis: A study of 106 families. Clin Genet 1977;11:327-341.
    • (1977) Clin Genet , vol.11 , pp. 327-341
    • Simon, M.1    Alexandre, J.L.2    Bourel, M.3    LeMarec, B.4
  • 23
    • 0029809511 scopus 로고    scopus 로고
    • Defective iron homeostasis in β2-microglobulin knockout mice recapitulates hereditary hemochromatosis in man
    • Santos M, Schilham MW, Rademakers LHPM, Marx JJM, De Sousa M, Clevers H: Defective iron homeostasis in β2-microglobulin knockout mice recapitulates hereditary hemochromatosis in man. J Exp Med 1996;184:1975-1985.
    • (1996) J Exp Med , vol.184 , pp. 1975-1985
    • Santos, M.1    Schilham, M.W.2    Rademakers, L.H.P.M.3    Marx, J.J.M.4    De Sousa, M.5    Clevers, H.6
  • 26
    • 0031729616 scopus 로고    scopus 로고
    • Prevalence of the C282Y- and the H63D-mutations in the HFE-gene in patients with hereditary haemochromatosis and in control subjects from Northern Germany
    • Nielsen P, Carpinteiro S, Fischer R, Cabeda JM, Porto G, Gabbe EE: Prevalence of the C282Y- and the H63D-mutations in the HFE-gene in patients with hereditary haemochromatosis and in control subjects from Northern Germany. Br J Haematol 1998;103:842-845.
    • (1998) Br J Haematol , vol.103 , pp. 842-845
    • Nielsen, P.1    Carpinteiro, S.2    Fischer, R.3    Cabeda, J.M.4    Porto, G.5    Gabbe, E.E.6
  • 27
    • 0344885633 scopus 로고    scopus 로고
    • Gendiagnostische möglichkeiten der hereditären härmochromatose
    • Ganten D, Ruckpaul K (eds). Berlin, Springer
    • Nielsen P: Gendiagnostische Möglichkeiten der hereditären Härmochromatose; in Ganten D, Ruckpaul K (eds): Handbuch der Molekularen Medizin, Band 6: Monogen bedingte Erkrankungen. Berlin, Springer, 2000, pp 454-475.
    • (2000) Handbuch der Molekularen Medizin, Band 6: Monogen Bedingte Erkrankungen , vol.6 , pp. 454-475
    • Nielsen, P.1
  • 29
    • 0033862920 scopus 로고    scopus 로고
    • Uncommon mutations and polymorphisms in the hemochromatosis gene
    • Pointon JJ, Wallace D, Merryweather-Clarke AT: Uncommon mutations and polymorphisms in the hemochromatosis gene. Genet Test 2000;4:151-161.
    • (2000) Genet Test , vol.4 , pp. 151-161
    • Pointon, J.J.1    Wallace, D.2    Merryweather-Clarke, A.T.3
  • 31
    • 0031710042 scopus 로고    scopus 로고
    • Severe juvenile haemochromatosis (JH) missing HFE gene variants: Implications for a second gene locus leading to iron overload
    • Kaltwasser JP, Gottschalk R, Seidl CH: Severe juvenile haemochromatosis (JH) missing HFE gene variants: Implications for a second gene locus leading to iron overload. Br J Haematol 1998;102:1111-1122.
    • (1998) Br J Haematol , vol.102 , pp. 1111-1122
    • Kaltwasser, J.P.1    Gottschalk, R.2    Seidl, C.H.3
  • 36
    • 0026619233 scopus 로고
    • Neonatal hemochromatosis
    • Kniseley AS: Neonatal hemochromatosis. Adv Pediatr 1992;39:383-403.
    • (1992) Adv Pediatr , vol.39 , pp. 383-403
    • Kniseley, A.S.1
  • 37
  • 38
    • 0025913745 scopus 로고
    • Long-term survival analysis in hereditary hemochromatosis
    • Adams PC, Speechley M, Kertesz AE: Long-term survival analysis in hereditary hemochromatosis. Gastroenterology 1991;101:368-372.
    • (1991) Gastroenterology , vol.101 , pp. 368-372
    • Adams, P.C.1    Speechley, M.2    Kertesz, A.E.3
  • 39
    • 0031030733 scopus 로고    scopus 로고
    • The relationship between iron overload, clinical symptoms, and age in 410 patients with genetic hemochromatosis
    • Adams PC, Deugnier Y, Moirand R, Brissot P: The relationship between iron overload, clinical symptoms, and age in 410 patients with genetic hemochromatosis. Hepatology 1997;25:162-166.
    • (1997) Hepatology , vol.25 , pp. 162-166
    • Adams, P.C.1    Deugnier, Y.2    Moirand, R.3    Brissot, P.4
  • 42
    • 0037132786 scopus 로고    scopus 로고
    • Penetrance of 845G*A (C282Y) HFE hereditary haemochromatosis mutation in the USA
    • Beutler E, Felitti VJ, Koziol JA, Ho JN, 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, J.N.4    Gelbart, T.5
  • 44
    • 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
  • 45
    • 0023736197 scopus 로고
    • Non-transferrin-bound iron in plasma from hemochromatosis patients: Effect of phlebotomy therapy
    • Aruoma OI, Bomford A, Polson RJ, Halliwell B: Non-transferrin-bound iron in plasma from hemochromatosis patients: Effect of phlebotomy therapy. Blood 1988;72:1416-1419.
    • (1988) Blood , vol.72 , pp. 1416-1419
    • Aruoma, O.I.1    Bomford, A.2    Polson, R.J.3    Halliwell, B.4
  • 46
    • 0015804314 scopus 로고
    • Serum ferritin concentration and iron stores in normal subjects
    • Walters GO, Miller FM, Woorwood M: Serum ferritin concentration and iron stores in normal subjects. J Clin Pathol 1973;26:770-772.
    • (1973) J Clin Pathol , vol.26 , pp. 770-772
    • Walters, G.O.1    Miller, F.M.2    Woorwood, M.3
  • 47
    • 0033724403 scopus 로고    scopus 로고
    • Using SQUID biomagnetic liver susceptometry in the treatment of thalassaemia and other iron loading diseases
    • Nielsen P, Engelhardt R, Duerken M, Janka GE, Fischer R: Using SQUID biomagnetic liver susceptometry in the treatment of thalassaemia and other iron loading diseases. Transfus Sci 2000;23:257-258.
    • (2000) Transfus Sci , vol.23 , pp. 257-258
    • Nielsen, P.1    Engelhardt, R.2    Duerken, M.3    Janka, G.E.4    Fischer, R.5
  • 49
    • 0026011761 scopus 로고
    • Absence of macrophage and presence of plasmacellular iron storage in the terminal duodenum of patients of patients with hereditary haemochromatosis
    • Düllmann J, Wulfhekel U, Mohr A, Riecken K, Hausmann K: Absence of macrophage and presence of plasmacellular iron storage in the terminal duodenum of patients of patients with hereditary haemochromatosis. Virchows Arch A Pathol Anat Histopathol 1991;418:241-247.
    • (1991) Virchows Arch A Pathol Anat Histopathol , vol.418 , pp. 241-247
    • Düllmann, J.1    Wulfhekel, U.2    Mohr, A.3    Riecken, K.4    Hausmann, K.5
  • 50
    • 0001019873 scopus 로고
    • Primary iron overload
    • Brock JH, Halliday JW, Pippard MJ, Powell LW (eds). London, Saunders
    • Powell LW: Primary iron overload; in Brock JH, Halliday JW, Pippard MJ, Powell LW (eds): Iron Metabolism in Health and Disease. London, Saunders, 1994, pp 227-270.
    • (1994) Iron Metabolism in Health and Disease , pp. 227-270
    • Powell, L.W.1
  • 52
    • 0022656390 scopus 로고
    • Value of hepatic iron measurement in early hemochromatosis and determination of the critical iron level associated with fibrosis
    • Bassett ML, Halliday JW, Powell LW: Value of hepatic iron measurement 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
  • 55
    • 0025230594 scopus 로고
    • Non-invasive quantification of liver iron-overload by magnetic resonance imaging
    • Kaltwasser JP, Gottschalk R, Schalk KP, Hartl W: Non-invasive quantification of liver iron-overload by magnetic resonance imaging. Br J Haematol 1990;74:360-363.
    • (1990) Br J Haematol , vol.74 , pp. 360-363
    • Kaltwasser, J.P.1    Gottschalk, R.2    Schalk, K.P.3    Hartl, W.4
  • 57
    • 0028321571 scopus 로고
    • Non-invasive assessment of tissue iron overload in the liver by magnetic resonance imaging
    • Jensen PD, Jensen FT, Christensen T, Ellegard J: Non-invasive assessment of tissue iron overload in the liver by magnetic resonance imaging. Br J Haematol 1994;87:171-184.
    • (1994) Br J Haematol , vol.87 , pp. 171-184
    • Jensen, P.D.1    Jensen, F.T.2    Christensen, T.3    Ellegard, J.4
  • 58
    • 0034000586 scopus 로고    scopus 로고
    • Quantitative mapping of transverse relaxivity (1/T) in hepatic iron overload: A single spin-echo imaging methodology
    • Clark PR, St. Pierre TG: Quantitative mapping of transverse relaxivity (1/T) in hepatic iron overload: A single spin-echo imaging methodology. Magn Reson Imaging 2000;18:431-438.
    • (2000) Magn Reson Imaging , vol.18 , pp. 431-438
    • Clark, P.R.1    St. Pierre, T.G.2
  • 59
    • 0344885634 scopus 로고
    • The calibration problem in liver iron susceptometry
    • Williamson SJ, Hoke M, Stroink G, Kotani M (eds). New York, Plenum
    • Fischer R, Engelhardt R, Heinrich HC, Kessler M, Nielsen P: The calibration problem in liver iron susceptometry; in Williamson SJ, Hoke M, Stroink G, Kotani M (eds): Advances in Biomagnetism. New York, Plenum, 1989, pp 501-504.
    • (1989) Advances in Biomagnetism , pp. 501-504
    • Fischer, R.1    Engelhardt, R.2    Heinrich, H.C.3    Kessler, M.4    Nielsen, P.5
  • 60
    • 0000161330 scopus 로고    scopus 로고
    • Liver iron susceptometry
    • Andrä W, Nowak H (eds). Berlin, Wiley-VCH
    • Fischer R: Liver iron susceptometry; in Andrä W, Nowak H (eds): Magnetism in Medicine. Berlin, Wiley-VCH, 1998, pp 286-301.
    • (1998) Magnetism in Medicine , pp. 286-301
    • Fischer, R.1
  • 62
    • 0033561342 scopus 로고    scopus 로고
    • HFE mutations analysis in 711 hemochromatosis probands: Evidence for S65C implication in mild form of hemochromatosis
    • Mura C, Raguenes O, Ferec C: HFE mutations analysis in 711 hemochromatosis probands: Evidence for S65C implication in mild form of he-mochromatosis. Blood 1998;99:2502-2505.
    • (1998) Blood , vol.99 , pp. 2502-2505
    • Mura, C.1    Raguenes, O.2    Ferec, C.3
  • 63
    • 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
  • 65
    • 0033612839 scopus 로고    scopus 로고
    • Hereditary haemochromatosis: To screen or not. Conditions for screening are not yet fulfilled
    • Haddow JE, Bradley LA. Hereditary haemochromatosis: To screen or not. Conditions for screening are not yet fulfilled (editorial). BMJ 1999;319:531-532.
    • (1999) BMJ , vol.319 , pp. 531-532
    • Haddow, J.E.1    Bradley, L.A.2


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