메뉴 건너뛰기




Volumn 111, Issue 6, 2002, Pages 538-543

Hereditary haemochromatosis: Only 1% of adult HFE C282Y homozygotes in South Wales have a clinical diagnosis of iron overload

Author keywords

[No Author keywords available]

Indexed keywords

FERRITIN; HFE PROTEIN; IRON; TRANSFERRIN;

EID: 0036944167     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-002-0824-1     Document Type: Article
Times cited : (74)

References (32)
  • 1
    • 0033050583 scopus 로고    scopus 로고
    • Screening blood donors for hereditary hemochromatosis: Decision analysis model comparing genotyping to phenotyping
    • Adams PC, Valberg LS (1999) Screening blood donors for hereditary hemochromatosis: Decision analysis model comparing genotyping to phenotyping. Am J Gastroenterol 94:1593-1600
    • (1999) Am J Gastroenterol , vol.94 , pp. 1593-1600
    • Adams, P.C.1    Valberg, L.S.2
  • 2
    • 0029029626 scopus 로고
    • Screening blood donors for hereditary hemochromatosis: Decision analysis model based on a 30-year database
    • Adams PC, Gregor JC, Kertesz AE, Valberg LS (1995) Screening blood donors for hereditary hemochromatosis: Decision analysis model based on a 30-year database. Gastroenterology 109:177-188
    • (1995) Gastroenterology , vol.109 , pp. 177-188
    • Adams, P.C.1    Gregor, J.C.2    Kertesz, A.E.3    Valberg, L.S.4
  • 3
    • 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 (1997) The relationship between iron overload, clinical symptoms, and age in 410 patients with genetic hemochromatosis. Hepatology 25:162-166
    • (1997) Hepatology , vol.25 , pp. 162-166
    • Adams, P.C.1    Deugnier, Y.2    Moirand, R.3    Brissot, P.4
  • 5
    • 0035525732 scopus 로고    scopus 로고
    • Discrepancies between genotype and phenotype in hematology: An important frontier
    • Beutler E (2001) Discrepancies between genotype and phenotype in hematology: An important frontier. Blood 98:2597-2602
    • (2001) Blood , vol.98 , pp. 2597-2602
    • Beutler, E.1
  • 6
    • 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 (2002) Penetrance of 845G → A (C282Y) HFE hereditary haemochromatosis mutation in the USA. Lancet 359:211-218
    • (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
  • 7
    • 0030341599 scopus 로고    scopus 로고
    • Population screening for hemochromatosis: Expectations based on study of relatives of symptomatic patients
    • Bradley LA, Haddow JE, Palomaki GE (1996) Population screening for hemochromatosis: Expectations based on study of relatives of symptomatic patients. J Med Screening 3:171-177
    • (1996) J Med Screening , vol.3 , pp. 171-177
    • Bradley, L.A.1    Haddow, J.E.2    Palomaki, G.E.3
  • 8
    • 0031866466 scopus 로고    scopus 로고
    • Hereditary haemochromatosis mutations (HFE) in patients with type II diabetes mellitus
    • Braun J, Donner H, Plock K, Rau H, Usadel KH, Badenhoop K (1998) Hereditary haemochromatosis mutations (HFE) in patients with type II diabetes mellitus. Diabetologia 41:983-984
    • (1998) Diabetologia , vol.41 , pp. 983-984
    • Braun, J.1    Donner, H.2    Plock, K.3    Rau, H.4    Usadel, K.H.5    Badenhoop, K.6
  • 11
    • 0033764751 scopus 로고    scopus 로고
    • Contribution of different HFE genotypes to iron overload disease: A pooled analysis
    • Burke W, Imperatone G, McDonnell SM, Baron RC, Khoury MJ (2000) Contribution of different HFE genotypes to iron overload disease: A pooled analysis. Genet Med 2:271-277
    • (2000) Genet Med , vol.2 , pp. 271-277
    • Burke, W.1    Imperatone, G.2    McDonnell, S.M.3    Baron, R.C.4    Khoury, M.J.5
  • 12
    • 10444242746 scopus 로고    scopus 로고
    • British Committee for Standards in Haematology. Darwin Medical Communications, Abingdon, Oxford
    • Dooley J, Worwood M (2000) Guidelines on Diagnosis and Therapy: Genetic haemochromatosis. British Committee for Standards in Haematology. Darwin Medical Communications, Abingdon, Oxford (http://www.bcshguidelines.com/guidelines.asp?tf=Haemato-Oncology)
    • (2000) Guidelines on Diagnosis and Therapy: Genetic Haemochromatosis.
    • Dooley, J.1    Worwood, M.2
  • 13
    • 0034908554 scopus 로고    scopus 로고
    • Nomenclature for the description of human sequence variations
    • Dunnen JT den, Antonarakis SE (2001) Nomenclature for the description of human sequence variations. Hum Genet 109:121-124
    • (2001) Hum Genet , vol.109 , pp. 121-124
    • Den Dunnen, J.T.1    Antonarakis, S.E.2
  • 17
  • 19
    • 0032572364 scopus 로고    scopus 로고
    • C282Y mutation in HFE (haemochromatosis) gene and type 2 diabetes
    • Frayling T, Ellard S, Grove J, Walker M, Hattersley AT (1998) C282Y mutation in HFE (haemochromatosis) gene and type 2 diabetes. Lancet 351:1933-1934
    • (1998) Lancet , vol.351 , pp. 1933-1934
    • Frayling, T.1    Ellard, S.2    Grove, J.3    Walker, M.4    Hattersley, A.T.5
  • 27
    • 0005600868 scopus 로고    scopus 로고
    • A simple genetic test identifies 90% of UK patients with haemochromatosis
    • UK Haemochromatosis Consortium (1997) A simple genetic test identifies 90% of UK patients with haemochromatosis. Gut 41: 841-844
    • (1997) Gut , vol.41 , pp. 841-844
  • 28
    • 0031214025 scopus 로고    scopus 로고
    • A high prevalence of HLA-H 845A mutations in hemochromatosis patients and the normal population in eastern England
    • Willis G, Jennings BA, Goodman E, Fellows IW, Wimperis JZ (1997) A high prevalence of HLA-H 845A mutations in hemochromatosis patients and the normal population in eastern England. Blood Cells Mol Dis 23:288-291
    • (1997) Blood Cells Mol Dis , vol.23 , pp. 288-291
    • Willis, G.1    Jennings, B.A.2    Goodman, E.3    Fellows, I.W.4    Wimperis, J.Z.5
  • 29
  • 31
    • 0002836620 scopus 로고
    • The principles and practice of screening for disease
    • World Health Organization, Geneva
    • Wilson JMG, Junger G (1968) The principles and practice of screening for disease. Public Health Paper no. 34. World Health Organization, Geneva
    • (1968) Public Health Paper No. 34
    • Wilson, J.M.G.1    Junger, G.2
  • 32
    • 0032401683 scopus 로고    scopus 로고
    • Hemochromatosis-associated mortality in the United States from 1979 to 1992: An analysis of multiple-cause mortality data
    • Yang Q, McDonnell SM, Khoury MJ, Cono J, Parrish RG (1998) Hemochromatosis-associated mortality in the United States from 1979 to 1992: An analysis of multiple-cause mortality data. Ann Intern Med 129:946-953
    • (1998) Ann Intern Med , vol.129 , pp. 946-953
    • Yang, Q.1    McDonnell, S.M.2    Khoury, M.J.3    Cono, J.4    Parrish, R.G.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.