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Volumn 53, Issue 2, 2001, Pages 117-120

Heterozygosity for the H63D mutation in the hereditary hemochromatosis (HFE) gene may lead into severe iron overload in β-thalassemia minor: Observations in a thalassemic kindred

Author keywords

C282Y; Gene; H63D; Hemochromatosis; Hereditary; Mutation; Thalassemia

Indexed keywords

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

EID: 0035293235     PISSN: 00348376     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (21)

References (17)
  • 1
    • 0022142338 scopus 로고
    • Hereditary hemochromatosis (genetic or idiopathic)
    • Translation by Ruiz-Argüelles GJ
    • Hemochromatosis Research Foundation: Hereditary hemochromatosis (genetic or idiopathic). Translation by Ruiz-Argüelles GJ. Rev Invest Clin Méx 1985; 37: 395-8.
    • (1985) Rev Invest Clin Méx , vol.37 , pp. 395-398
  • 3
    • 9344224529 scopus 로고    scopus 로고
    • A novel MHC class I-like gene is mutated in patients with hereditary hemochromatosis
    • Feder JN, Gnirke A, Thomas W, Tsuchihashi Z, Ruddy DA. A novel MHC class I-like gene is mutated in patients with hereditary hemochromatosis. Nat Genet 1996; 13: 399-409.
    • (1996) Nat Genet , vol.13 , pp. 399-409
    • Feder, J.N.1    Gnirke, A.2    Thomas, W.3    Tsuchihashi, Z.4    Ruddy, D.A.5
  • 4
    • 6844240223 scopus 로고    scopus 로고
    • Development of a multiplex ARMS test for mutations in the HFE gene associated with hereditary haemochromatosis
    • Baty D, Terron-Kwiatkowski A, Mechan D, Harris A, Pippard MJ, Goudie D. Development of a multiplex ARMS test for mutations in the HFE gene associated with hereditary haemochromatosis. J Clin Pathol 1998; 51: 73-4.
    • (1998) J Clin Pathol , vol.51 , pp. 73-74
    • Baty, D.1    Terron-Kwiatkowski, A.2    Mechan, D.3    Harris, A.4    Pippard, M.J.5    Goudie, D.6
  • 5
    • 0001091381 scopus 로고    scopus 로고
    • A simple genetic test identifies 90% of UK patients with hereditary hemochromatosis. The UK haemochromatosis consortium
    • Worwood M, Sherman JD, Wallace DF. A simple genetic test identifies 90% of UK patients with hereditary hemochromatosis. The UK haemochromatosis consortium. Gut 1997; 41: 841-4.
    • (1997) Gut , vol.41 , pp. 841-844
    • Worwood, M.1    Sherman, J.D.2    Wallace, D.F.3
  • 6
    • 16944363480 scopus 로고    scopus 로고
    • Mutation analysis of the HLA-H gene in Italian hemochromatosis patients
    • Carella M, D'Ambrosio L, Totaro A, Gifa A. Mutation analysis of the HLA-H gene in Italian hemochromatosis patients. Am J Hum Genet 1997; 60: 828-32.
    • (1997) Am J Hum Genet , vol.60 , pp. 828-832
    • Carella, M.1    D'Ambrosio, L.2    Totaro, A.3    Gifa, A.4
  • 10
    • 0031849493 scopus 로고    scopus 로고
    • Non-transfusional iron overload in thalassemia: Association with hereditary hemochromatosis
    • Rees DC, Luo LY, Thein SL, Simgh BM, Wickramashinge S. Non-transfusional iron overload in thalassemia: Association with hereditary hemochromatosis. Ann NY Acad Sci 1998; 850: 490-4.
    • (1998) Ann NY Acad Sci , vol.850 , pp. 490-494
    • Rees, D.C.1    Luo, L.Y.2    Thein, S.L.3    Simgh, B.M.4    Wickramashinge, S.5
  • 12
    • 0034061096 scopus 로고    scopus 로고
    • β-thalassemia trait might increase the severity of hemochromatosis in subjects with the C282Y mutation in the HFE gene
    • Arruda VR, Agostinho MF, Cancado R, Costa FF, Saad STO. β-thalassemia trait might increase the severity of hemochromatosis in subjects with the C282Y mutation in the HFE gene. Am J Hematol 2000; 633: 230.
    • (2000) Am J Hematol , vol.633 , pp. 230
    • Arruda, V.R.1    Agostinho, M.F.2    Cancado, R.3    Costa, F.F.4    Saad, S.T.O.5
  • 14
    • 84862717708 scopus 로고    scopus 로고
    • Iron overloading in β-thalassemia trait and spherocytosis: Analysis of C282Y and H63D mutations
    • abstr 2740
    • Fairbanks VF, Thibodeau SN, Granfortuna JM, Lubin IM, Silverman LM. Rohlfs EM. Iron overloading in β-thalassemia trait and spherocytosis: Analysis of C282Y and H63D mutations. Blood 1997; 190 (Suppl.1), abstr 2740.
    • (1997) Blood , vol.190 , Issue.1 SUPPL.
    • Fairbanks, V.F.1    Thibodeau, S.N.2    Granfortuna, J.M.3    Lubin, I.M.4    Silverman, L.M.5    Rohlfs, E.M.6
  • 15
    • 3343012480 scopus 로고    scopus 로고
    • Abnormal hemoglobins and thalassemia in Mexico
    • Ruiz-Reyes G. Abnormal hemoglobins and thalassemia in Mexico. Rev Invest Clín Mex 1998; 50: 163-70.
    • (1998) Rev Invest Clín Mex , vol.50 , pp. 163-170
    • Ruiz-Reyes, G.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.