메뉴 건너뛰기




Volumn 23, Issue 5, 2014, Pages 770-777

Insufficient Referral for Genetic Counseling in the Management of Hereditary Haemochromatosis in Portugal: A Study of Perceptions of Health Professionals Requesting HFE Genotyping

Author keywords

General practitioners; Genetic counseling; Haemochromatosis; HFE genotyping; Medical education

Indexed keywords

HFE PROTEIN, HUMAN; HLA ANTIGEN CLASS 1; MEMBRANE PROTEIN;

EID: 84891553586     PISSN: 10597700     EISSN: 15733599     Source Type: Journal    
DOI: 10.1007/s10897-013-9681-4     Document Type: Article
Times cited : (4)

References (24)
  • 2
    • 80051723867 scopus 로고    scopus 로고
    • Health check-ups and family screening allow detection of hereditary hemochromatosis with less advanced liver fibrosis and survival comparable with the general population
    • PID: 21675821
    • Aleman, S., Endalib, S., Stål, P., Lööf, L., Lindgren, S., Sandberg-Gertzén, H., et al. (2011). Health check-ups and family screening allow detection of hereditary hemochromatosis with less advanced liver fibrosis and survival comparable with the general population. Scandinavian Journal of Gastroenterology, 46, 1118–1126.
    • (2011) Scandinavian Journal of Gastroenterology , vol.46 , pp. 1118-1126
    • Aleman, S.1    Endalib, S.2    Stål, P.3    Lööf, L.4    Lindgren, S.5    Sandberg-Gertzén, H.6
  • 3
    • 28644446593 scopus 로고    scopus 로고
    • Deficiency of knowledge of genetics and genetic tests among general practitioners, gynecologists, and pediatricians: a global problem
    • PID: 16301861
    • Baars, M. J., Henneman, L., & Ten Kate, L. P. (2005a). Deficiency of knowledge of genetics and genetic tests among general practitioners, gynecologists, and pediatricians: a global problem. Genetics in Medicine, 7(9), 605–610.
    • (2005) Genetics in Medicine , vol.7 , Issue.9 , pp. 605-610
    • Baars, M.J.1    Henneman, L.2    Ten Kate, L.P.3
  • 4
    • 20444441103 scopus 로고    scopus 로고
    • Deficient knowledge of genetics relevant for daily practice among medical students nearing graduation
    • PID: 15915080
    • Baars, M. J., Scherpbier, A. J., Schuwirth, L. W., Henneman, L., Beemer, F. A., Cobben, J. M., et al. (2005b). Deficient knowledge of genetics relevant for daily practice among medical students nearing graduation. Genetics in Medicine, 7(5), 295–301.
    • (2005) Genetics in Medicine , vol.7 , Issue.5 , pp. 295-301
    • Baars, M.J.1    Scherpbier, A.J.2    Schuwirth, L.W.3    Henneman, L.4    Beemer, F.A.5    Cobben, J.M.6
  • 5
    • 33645407421 scopus 로고    scopus 로고
    • A “neglect part of the curriculum” or “of limited use”? Views on genetics training by nongenetics medical trainees and implications for delivery
    • PID: 16481894
    • Burke, S., Stone, A., Bedward, J., Thomas, H., & Farndon, P. (2006). A “neglect part of the curriculum” or “of limited use”? Views on genetics training by nongenetics medical trainees and implications for delivery. Genetics in Medicine, 8, 109–115.
    • (2006) Genetics in Medicine , vol.8 , pp. 109-115
    • Burke, S.1    Stone, A.2    Bedward, J.3    Thomas, H.4    Farndon, P.5
  • 6
    • 0035663602 scopus 로고    scopus 로고
    • Comparative study of the two more frequent HFE mutations (C282Y and H63D): significant different allelic frequencies between the North and South of Portugal
    • COI: 1:CAS:528:DC%2BD38XovFSjsg%3D%3D, PID: 11781701
    • Cardoso, C. S., Oliveira, P., Porto, G., Oberkanins, C., Mascarenhas, M., Rodrigues, P., et al. (2001). Comparative study of the two more frequent HFE mutations (C282Y and H63D): significant different allelic frequencies between the North and South of Portugal. European Journal of Human Genetics, 9, 843–848.
    • (2001) European Journal of Human Genetics , vol.9 , pp. 843-848
    • Cardoso, C.S.1    Oliveira, P.2    Porto, G.3    Oberkanins, C.4    Mascarenhas, M.5    Rodrigues, P.6
  • 7
    • 84867578495 scopus 로고    scopus 로고
    • The hemochromatosis proteins HFE, TfR2, and HJV form a membrane-associated protein complex for hepcidin regulation
    • PID: 22728873
    • D’Alessio, F., Hentze, M. W., & Muckenthaler, M. U. (2012). The hemochromatosis proteins HFE, TfR2, and HJV form a membrane-associated protein complex for hepcidin regulation. Journal of Hepatology, 57, 1052–1060.
    • (2012) Journal of Hepatology , vol.57 , pp. 1052-1060
    • D’Alessio, F.1    Hentze, M.W.2    Muckenthaler, M.U.3
  • 8
    • 77953120762 scopus 로고    scopus 로고
    • EASLD clinical practice guidelines for HFE hemochromaosis
    • EASL. (2010). EASLD clinical practice guidelines for HFE hemochromaosis. Journal of Hepatology, 53, 3–22.
    • (2010) Journal of Hepatology , vol.53 , pp. 3-22
    • EASL1
  • 9
    • 0033963016 scopus 로고    scopus 로고
    • Diagnosis and management of haemochromatosis since the discovery of the HFE gene: a European experience
    • European and UK Haemochromatosis Consortium. (2000). Diagnosis and management of haemochromatosis since the discovery of the HFE gene: a European experience. British Journal of Haematology, 108, 31–39.
    • (2000) British Journal of Haematology , vol.108 , pp. 31-39
    • European and UK Haemochromatosis Consortium1
  • 10
    • 72849151855 scopus 로고    scopus 로고
    • Population screening for genetic disorders in the 21st century: evidence, economics, and ethics
    • COI: 1:STN:280:DC%2BD1MfhsVWisA%3D%3D, PID: 19556749
    • Grosse, S. D., Rogowski, W. H., Ross, L. F., Cornel, M. C., Dondorp, W. J., & Khoury, M. J. (2010). Population screening for genetic disorders in the 21st century: evidence, economics, and ethics. Public Health Genomics, 13, 106–115.
    • (2010) Public Health Genomics , vol.13 , pp. 106-115
    • Grosse, S.D.1    Rogowski, W.H.2    Ross, L.F.3    Cornel, M.C.4    Dondorp, W.J.5    Khoury, M.J.6
  • 11
    • 85019200402 scopus 로고    scopus 로고
    • Canberra, 18 February 2010. Available at [Accessed 19 May 2010]
    • Human Genetics Advisory Committee Meeting: communique. Canberra, 18 February 2010. Available at www.nhmrc.gov.au/about/committees/hgac/meeting_100218.htm [Accessed 19 May 2010].
    • Human Genetics Advisory Committee Meeting: communique
  • 12
    • 33845468948 scopus 로고    scopus 로고
    • Best practice guidelines for the molecular Genetic diagnosis of type I (HFE-related) hereditary haemochromatosis
    • PID: 17134494
    • King, C., & Barton, D. E. (2006). Best practice guidelines for the molecular Genetic diagnosis of type I (HFE-related) hereditary haemochromatosis. BMC Medical Genetics, 7, 81.
    • (2006) BMC Medical Genetics , vol.7 , pp. 81
    • King, C.1    Barton, D.E.2
  • 13
    • 77957377033 scopus 로고    scopus 로고
    • Genetics and genomics in general practice
    • PID: 20877778
    • Liaw, S. T. (2010). Genetics and genomics in general practice. Australian Family Physician, 39(9), 689–691.
    • (2010) Australian Family Physician , vol.39 , Issue.9 , pp. 689-691
    • Liaw, S.T.1
  • 14
    • 0029913626 scopus 로고    scopus 로고
    • Long-term survival in patients with hereditary hemochromatosis
    • COI: 1:STN:280:DyaK287otlWnug%3D%3D, PID: 8613000
    • Niederau, C., Fischer, R., & Purschel, A. (1996). Long-term survival in patients with hereditary hemochromatosis. Gastroenterology, 110, 1107–1119.
    • (1996) Gastroenterology , vol.110 , pp. 1107-1119
    • Niederau, C.1    Fischer, R.2    Purschel, A.3
  • 15
    • 49849106357 scopus 로고    scopus 로고
    • Hereditary hemochromatosis: time for targeted screening
    • PID: 18711158
    • Phatak, P. D., Bonkovsky, H. L., & Kowdley, K. V. (2008). Hereditary hemochromatosis: time for targeted screening. Annals of Internal Medicine, 149, 270–272.
    • (2008) Annals of Internal Medicine , vol.149 , pp. 270-272
    • Phatak, P.D.1    Bonkovsky, H.L.2    Kowdley, K.V.3
  • 16
    • 33749016001 scopus 로고    scopus 로고
    • Genetics education for non-genetic health care professionals in the Netherlands
    • Plass, A. M., Baars, M. J., Beemer, F. A., & Ten Kate, L. P. (2002). Genetics education for non-genetic health care professionals in the Netherlands. Community Genetics, 9(4), 246–250.
    • (2002) Community Genetics , vol.9 , Issue.4 , pp. 246-250
    • Plass, A.M.1    Baars, M.J.2    Beemer, F.A.3    Ten Kate, L.P.4
  • 17
    • 77955980665 scopus 로고    scopus 로고
    • Genetic education and the challenge of genomic medicine: development of core competences to support preparation of health professionals in Europe
    • PID: 20442748
    • Skirton, H., Lewis, C., Kent, A., & Coviello, D. (2010). Genetic education and the challenge of genomic medicine: development of core competences to support preparation of health professionals in Europe. European Journal of Human Genetics, 18, 972–977.
    • (2010) European Journal of Human Genetics , vol.18 , pp. 972-977
    • Skirton, H.1    Lewis, C.2    Kent, A.3    Coviello, D.4
  • 18
    • 84861599555 scopus 로고    scopus 로고
    • Effect of ambiguous hemochromatosis gene test results on physician utilization
    • PID: 22228247
    • Speechley, M., Alter, D., Guo, H., Harrison, H., & Adams, P. C. (2012). Effect of ambiguous hemochromatosis gene test results on physician utilization. Medical Care, 50, 394–398.
    • (2012) Medical Care , vol.50 , pp. 394-398
    • Speechley, M.1    Alter, D.2    Guo, H.3    Harrison, H.4    Adams, P.C.5
  • 20
    • 33746802494 scopus 로고    scopus 로고
    • Screening for hemochromatosis: recommendation statement European
    • U.S. Preventive Services Task Force. (2006). Screening for hemochromatosis: recommendation statement European. Annals of Internal Medicine, 145(3), 204–208.
    • (2006) Annals of Internal Medicine , vol.145 , Issue.3 , pp. 204-208
    • U.S. Preventive Services Task Force1
  • 22
    • 0030732164 scopus 로고    scopus 로고
    • Hereditary hemochromatosis: effects of P.CYS282TYR and H63D mutations on association with beta2-microglobulin, intracellular processing, and cell surface expression of the HFE protein in COS-7 cells
    • COI: 1:CAS:528:DyaK2sXns1ylsLo%3D, PID: 9356458
    • Waheed, A., Parkkila, S., Zhou, X. Y., Tomatsu, S., Tsuchihashi, Z., Feder, J. N., et al. (1997). Hereditary hemochromatosis: effects of P.CYS282TYR and H63D mutations on association with beta2-microglobulin, intracellular processing, and cell surface expression of the HFE protein in COS-7 cells. Proceedings of the National Academy of Sciences of the United States of America, 94, 12384–12389.
    • (1997) Proceedings of the National Academy of Sciences of the United States of America , vol.94 , pp. 12384-12389
    • Waheed, A.1    Parkkila, S.2    Zhou, X.Y.3    Tomatsu, S.4    Tsuchihashi, Z.5    Feder, J.N.6
  • 23
    • 33750819627 scopus 로고    scopus 로고
    • The clinical relevance of compound heterozygosity for the P.CYS282TYR and H63D substitutions in hemochromatosis
    • COI: 1:CAS:528:DC%2BD28XhtlartrzN, PID: 16979952
    • Walsh, A., Dixon, J. L., Ramm, G. A., Hewett, D. G., Lincoln, D. J., Anderson, G. J., et al. (2006). The clinical relevance of compound heterozygosity for the P.CYS282TYR and H63D substitutions in hemochromatosis. Clinical Gastroenterology and Hepatology, 4, 1403–1410.
    • (2006) Clinical Gastroenterology and Hepatology , vol.4 , pp. 1403-1410
    • Walsh, A.1    Dixon, J.L.2    Ramm, G.A.3    Hewett, D.G.4    Lincoln, D.J.5    Anderson, G.J.6
  • 24
    • 33746830877 scopus 로고    scopus 로고
    • Screening for hereditary hemochromatosis: a systematic review for the U.S. Preventive Services Task Force
    • PID: 16880463
    • Whitlock, E. P., Garlitz, B. A., Harris, E. L., Beil, T. L., & Smith, P. R. (2006). Screening for hereditary hemochromatosis: a systematic review for the U.S. Preventive Services Task Force. Annals of Internal Medicine, 145, 209–223.
    • (2006) Annals of Internal Medicine , 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


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.