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Volumn 29, Issue 1, 2015, Pages 41-45

Examining the clinical use of hemochromatosis genetic testing

Author keywords

Genetic testing; Hemochromatosis; Iron; Phlebotomy

Indexed keywords

BIOCHEMICAL MARKER; FERRITIN; HEMOGLOBIN; IRON; LIVER ENZYME; TRANSFERRIN; HEMOCHROMATOSIS PROTEIN; HFE PROTEIN, HUMAN; HLA ANTIGEN CLASS 1; MEMBRANE PROTEIN;

EID: 84922455882     PISSN: 22912789     EISSN: 22912797     Source Type: Journal    
DOI: 10.1155/2015/941406     Document Type: Article
Times cited : (7)

References (24)
  • 1
    • 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 2004;350:2383-97.
    • (2004) N Engl J Med , vol.350 , pp. 2383-2397
    • Pietrangelo, A.1
  • 2
    • 9344224529 scopus 로고    scopus 로고
    • A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis
    • Feder JN, Gnirke A, Thomas W, et al. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet 1996;13:399-408.
    • (1996) Nat Genet , vol.13 , pp. 399-408
    • Feder, J.N.1    Gnirke, A.2    Thomas, W.3
  • 3
    • 0035795607 scopus 로고    scopus 로고
    • Prevalence of C282Y and H63D mutations in the hemochromatosis (HFE) gene in the United States
    • Steinberg KK, Cogswell ME, Chang JC, et al. Prevalence of C282Y and H63D mutations in the hemochromatosis (HFE) gene in the United States. JAMA 2001;285:2216-22.
    • (2001) JAMA , vol.285 , pp. 2216-2222
    • Steinberg, K.K.1    Cogswell, M.E.2    Chang, J.C.3
  • 4
    • 77953120762 scopus 로고    scopus 로고
    • EASL clinical practice guidelines for HFE hemochromatosis
    • EASL clinical practice guidelines for HFE hemochromatosis. J Hepatol 2010;53:3-22.
    • (2010) J Hepatol , vol.53 , pp. 3-22
  • 5
    • 0037132786 scopus 로고    scopus 로고
    • Penetrance of 845G. A (C282Y) HFE hereditary haemochromatosis mutation in the USA
    • Beutler E, Felitti VJ, Koziol JA, Ho NJ, Gelbart T. Penetrance of 845G. A (C282Y) HFE hereditary haemochromatosis mutation in the USA. Lancet 2002;359:211-8.
    • (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
  • 6
    • 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 2004;79:309-13.
    • (2004) Mayo Clin Proc , vol.79 , pp. 309-313
    • Olynyk, J.K.1    Hagan, S.E.2    Cullen, D.J.3    Beilby, J.4    Whittall, D.E.5
  • 7
    • 79959547265 scopus 로고    scopus 로고
    • Diagnosis and management of hemochromatosis: 2011 practice guideline by the American Association for the Study of Liver Diseases
    • Bacon BR, Adams PC, Kowdley KV, Powell LW, Tavill AS. Diagnosis and management of hemochromatosis: 2011 practice guideline by the American Association for the Study of Liver Diseases. Hepatology 2011;54:328-43.
    • (2011) Hepatology , vol.54 , pp. 328-343
    • Bacon, B.R.1    Adams, P.C.2    Kowdley, K.V.3    Powell, L.W.4    Tavill, A.S.5
  • 9
    • 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 2001;36:1108-15.
    • (2001) Scand J Gastroenterol , vol.36 , pp. 1108-1115
    • Asberg, A.1    Hveem, K.2    Thorstensen, K.3
  • 10
    • 84862671571 scopus 로고    scopus 로고
    • Associations between single nucleotide polymorphisms in iron-related genes and iron status in multiethnic populations
    • McLaren CE, McLachlan S, Garner CP, et al. Associations between single nucleotide polymorphisms in iron-related genes and iron status in multiethnic populations. PLoS One 2012;7:e38339.
    • (2012) PLoS One , vol.7 , pp. e38339
    • McLaren, C.E.1    McLachlan, S.2    Garner, C.P.3
  • 11
    • 84902660833 scopus 로고    scopus 로고
    • H63D genotying for hemochromatosis: Helper or hindrance?
    • Adams PC. H63D genotying for hemochromatosis: Helper or hindrance? Can J Gastroenterol Hepatol 2014;28:179-80.
    • (2014) Can J Gastroenterol Hepatol , vol.28 , pp. 179-180
    • Adams, P.C.1
  • 12
    • 43549101420 scopus 로고    scopus 로고
    • Screening for hemochromatosis by measuring ferritin levels: A more effective approach
    • Waalen J, Felitti VJ, Gelbart T, Beutler E. Screening for hemochromatosis by measuring ferritin levels: A more effective approach. Blood 2008;111:3373-6.
    • (2008) Blood , vol.111 , pp. 3373-3376
    • Waalen, J.1    Felitti, V.J.2    Gelbart, T.3    Beutler, E.4
  • 13
    • 62449136887 scopus 로고    scopus 로고
    • Diagnosis of hepatic iron overload: A family study illustrating pitfalls in diagnosing hemochromatosis
    • Schranz M, Talasz H, Graziadei I, et al. Diagnosis of hepatic iron overload: A family study illustrating pitfalls in diagnosing hemochromatosis. Diagn Mol Pathol 2009;18:53-60.
    • (2009) Diagn Mol Pathol , vol.18 , pp. 53-60
    • Schranz, M.1    Talasz, H.2    Graziadei, I.3
  • 14
    • 79953836125 scopus 로고    scopus 로고
    • Iron overload in HFE C282Y heterozygotes at first genetic testing: A strategy for identifying rare HFE variants
    • Aguilar-Martinez P, Grandchamp B, Cunat S, et al. Iron overload in HFE C282Y heterozygotes at first genetic testing: A strategy for identifying rare HFE variants. Haematologica 2011;96:507-14.
    • (2011) Haematologica , vol.96 , pp. 507-514
    • Aguilar-Martinez, P.1    Grandchamp, B.2    Cunat, S.3
  • 15
    • 77951470753 scopus 로고    scopus 로고
    • Impact of gene patents and licensing practices on access to genetic testing for hereditary hemochromatosis
    • Chandrasekharan S, Pitlick E, Heaney C, Cook-Deegan R. Impact of gene patents and licensing practices on access to genetic testing for hereditary hemochromatosis. Genet Med 2010;12 (4 Suppl):S155-70.
    • (2010) Genet Med , vol.12 , Issue.4 , pp. S155-S170
    • Chandrasekharan, S.1    Pitlick, E.2    Heaney, C.3    Cook-Deegan, R.4
  • 16
    • 84906569604 scopus 로고    scopus 로고
    • Elevated serum ferritin
    • Van Wagner LB, Green RM. Elevated serum ferritin. JAMA 2014;312:743-4.
    • (2014) JAMA , vol.312 , pp. 743-744
    • Van Wagner, L.B.1    Green, R.M.2
  • 17
    • 70449587089 scopus 로고    scopus 로고
    • HFE, SLC40A1, HAMP, HJV, TFR2, and FTL mutations detected by denaturing high-performance liquid chromatography after iron phenotyping and HFE C282Y and H63D genotyping in 785 HEIRS Study participants
    • Barton JC, Lafreniere SA, Leiendecker-Foster C, et al. HFE, SLC40A1, HAMP, HJV, TFR2, and FTL mutations detected by denaturing high-performance liquid chromatography after iron phenotyping and HFE C282Y and H63D genotyping in 785 HEIRS Study participants. Am J Hematol 2009;84:710-4.
    • (2009) Am J Hematol , vol.84 , pp. 710-714
    • Barton, J.C.1    Lafreniere, S.A.2    Leiendecker-Foster, C.3
  • 18
    • 84865531574 scopus 로고    scopus 로고
    • Mutations in the HFE, TFR2, and SLC40A1 genes in patients with hemochromatosis
    • Del-Castillo-Rueda A, Moreno-Carralero MI, Cuadrado-Grande N, et al. Mutations in the HFE, TFR2, and SLC40A1 genes in patients with hemochromatosis. Gene 2012;508:15-20.
    • (2012) Gene , vol.508 , pp. 15-20
    • Del-Castillo-Rueda, A.1    Moreno-Carralero, M.I.2    Cuadrado-Grande, N.3
  • 19
    • 84896721746 scopus 로고    scopus 로고
    • Raised serum ferritin concentration in hereditary hyperferritinemia cataract syndrome is not a marker for iron overload
    • Yin D, Kulhalli V, Walker AP. Raised serum ferritin concentration in hereditary hyperferritinemia cataract syndrome is not a marker for iron overload. Hepatology 2014;59:1204-6.
    • (2014) Hepatology , vol.59 , pp. 1204-1206
    • Yin, D.1    Kulhalli, V.2    Walker, A.P.3
  • 20
    • 84870445696 scopus 로고    scopus 로고
    • CYBRD1 as a modifier gene that modulates iron phenotype in HFE p. C282Y homozygous patients
    • Pelucchi S, Mariani R, Calza S, et al. CYBRD1 as a modifier gene that modulates iron phenotype in HFE p. C282Y homozygous patients. Haematologica 2012;97:1818-25.
    • (2012) Haematologica , vol.97 , pp. 1818-1825
    • Pelucchi, S.1    Mariani, R.2    Calza, S.3
  • 21
    • 84871464519 scopus 로고    scopus 로고
    • Seventy-five genetic loci influencing the human red blood cell
    • Van Der Harst P, Zhang W, Mateo Leach I, et al. Seventy-five genetic loci influencing the human red blood cell. Nature 2012;492:369-75.
    • (2012) Nature , vol.492 , pp. 369-375
    • Van Der Harst, P.1    Zhang, W.2    Mateo Leach, I.3
  • 22
    • 79953321845 scopus 로고    scopus 로고
    • Genome-wide association study identifies genetic loci associated with iron deficiency
    • McLaren CE, Garner CP, Constantine CC, et al. Genome-wide association study identifies genetic loci associated with iron deficiency. PLoS One 2011;6:e17390.
    • (2011) PLoS One , vol.6 , pp. e17390
    • McLaren, C.E.1    Garner, C.P.2    Constantine, C.C.3
  • 23
    • 84897417989 scopus 로고    scopus 로고
    • LipidSeq: A next-generation clinical resequencing panel for monogenic dyslipidemias
    • Johansen CT, Dubé JB, Loyzer MN, et al. LipidSeq: A next-generation clinical resequencing panel for monogenic dyslipidemias. J Lipid Res 2014;55:765-72.
    • (2014) J Lipid Res , vol.55 , pp. 765-772
    • Johansen, C.T.1    Dubé, J.B.2    Loyzer, M.N.3
  • 24
    • 84899007760 scopus 로고    scopus 로고
    • Evaluation of a new NGS method based on a custom AmpliSeq library and Ion Torrent PGM sequencing for the fast detection of genetic variations in cardiomyopathies
    • Millat G, Chanavat V, Rousson R. Evaluation of a new NGS method based on a custom AmpliSeq library and Ion Torrent PGM sequencing for the fast detection of genetic variations in cardiomyopathies. Clin Chim Acta 2014;433:266-71.
    • (2014) Clin Chim Acta , vol.433 , pp. 266-271
    • Millat, G.1    Chanavat, V.2    Rousson, R.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.