메뉴 건너뛰기




Volumn 14, Issue 5, 2008, Pages 1049-1054

One-stage and chromogenic FVIII:C assay discrepancy in mild haemophilia A and the relationship with the mutation and bleeding phenotype

Author keywords

FVIII assay discrepancies; Gene mutations; Haemorrhagic tendency; Mild haemophilia A

Indexed keywords

ARGININE; BLOOD CLOTTING FACTOR 8; DESMOPRESSIN; HISTIDINE; LEUCINE; PHENYLALANINE; PROLINE; SERINE;

EID: 51249089221     PISSN: 13518216     EISSN: 13652516     Source Type: Journal    
DOI: 10.1111/j.1365-2516.2008.01781.x     Document Type: Article
Times cited : (60)

References (20)
  • 1
    • 0035077234 scopus 로고    scopus 로고
    • Definitions in hemophilia. Recommendations of the Scientific Subcommittee on FVIII and factor IX of the SSC of ISTH
    • White GC, Rosendaal F, Aledort LM, Lusher JM, Rothschild C, Ingerslev J. Definitions in hemophilia. Recommendations of the Scientific Subcommittee on FVIII and factor IX of the SSC of ISTH. Thromb Haemost 2001; 85: 560.
    • (2001) Thromb Haemost , vol.85 , pp. 560
    • White, G.C.1    Rosendaal, F.2    Aledort, L.M.3    Lusher, J.M.4    Rothschild, C.5    Ingerslev, J.6
  • 2
    • 50449147939 scopus 로고
    • Effect of antihemophilic factor on one-stage clotting tests; a presumptive test for hemophilia and a simple one-stage antihemophilic factor assay procedure
    • Langdell RD, Wagner RH, Brinkhous KM. Effect of antihemophilic factor on one-stage clotting tests; a presumptive test for hemophilia and a simple one-stage antihemophilic factor assay procedure. J Lab Clin Med 1953; 41: 637-47.
    • (1953) J Lab Clin Med , vol.41 , pp. 637-647
    • Langdell, R.D.1    Wagner, R.H.2    Brinkhous, K.M.3
  • 3
    • 0002641258 scopus 로고
    • The assay of antihaemophilic-globulin activity
    • Biggs R, Eveling J, Richards G. The assay of antihaemophilic-globulin activity. Br J Haematol 1955; 1: 20-34.
    • (1955) Br J Haematol , vol.1 , pp. 20-34
    • Biggs, R.1    Eveling, J.2    Richards, G.3
  • 4
    • 0018129846 scopus 로고
    • A colorimetric evaluation on factor VIII:C potency
    • Seghatchian MJ, Miller-Andersson M. A colorimetric evaluation on factor VIII:C potency. Med Lab Sci 1978; 35: 347-54.
    • (1978) Med Lab Sci , vol.35 , pp. 347-354
    • Seghatchian, M.J.1    Miller-Andersson, M.2
  • 5
    • 0000405093 scopus 로고
    • Variant mild haemophilia. Discrepancy in one stage and two stage factor VIII assays
    • (Abst 1123)
    • Hathaway WE, Christian MJ, Jacobson LJ. Variant mild haemophilia. Discrepancy in one stage and two stage factor VIII assays. Thromb Haemost 1983; Suppl 50: 357 (Abst 1123).
    • (1983) Thromb Haemost , Issue.SUPPL. 50 , pp. 357
    • Hathaway, W.E.1    Christian, M.J.2    Jacobson, L.J.3
  • 6
    • 0023950035 scopus 로고
    • Functional and immunological assays of FVIII in 133 haemophiliacs-characterization of a subgroup of patients with mild haemophilia A and discrepancy in 1- and 2-stage assays
    • Parquet-Gernez A, Mazurier C, Goudemand M. Functional and immunological assays of FVIII in 133 haemophiliacs-characterization of a subgroup of patients with mild haemophilia A and discrepancy in 1- and 2-stage assays. Thromb Haemost 1988; 59: 202-6.
    • (1988) Thromb Haemost , vol.59 , pp. 202-206
    • Parquet-Gernez, A.1    Mazurier, C.2    Goudemand, M.3
  • 7
    • 0028022060 scopus 로고
    • Familial discrepancy between the one-stage and two-stage factor VIII methods in a subgroup of patients with haemophilia A
    • Duncan EM, Duncan BM, Tunbridge LJ, Lloyd JV. Familial discrepancy between the one-stage and two-stage factor VIII methods in a subgroup of patients with haemophilia A. Br J Haematol 1994; 87: 846-8.
    • (1994) Br J Haematol , vol.87 , pp. 846-848
    • Duncan, E.M.1    Duncan, B.M.2    Tunbridge, L.J.3    Lloyd, J.V.4
  • 8
    • 0037330233 scopus 로고    scopus 로고
    • The molecular basic of hemophilia A: Genotype-phenotype relationships and inhibitor development
    • Goodeve AC, Peake IR. The molecular basic of hemophilia A: genotype-phenotype relationships and inhibitor development. Semin Thromb Haemost 2003; 29: 23-30.
    • (2003) Semin Thromb Haemost , vol.29 , pp. 23-30
    • Goodeve, A.C.1    Peake, I.R.2
  • 9
    • 0029886287 scopus 로고    scopus 로고
    • Mutations in a subgroup of patients with mild haemophilia A and a familial discrepancy between the one-stage and two-stage factor VIII:C methods
    • Rudzki Z, Duncan EM, Casey GJ, Neumann M, Favaloro EJ, Lloyd JV. Mutations in a subgroup of patients with mild haemophilia A and a familial discrepancy between the one-stage and two-stage factor VIII:C methods. Br J Haematol 1996; 94: 400-6.
    • (1996) Br J Haematol , vol.94 , pp. 400-406
    • Rudzki, Z.1    Duncan, E.M.2    Casey, G.J.3    Neumann, M.4    Favaloro, E.J.5    Lloyd, J.V.6
  • 11
    • 0033065031 scopus 로고    scopus 로고
    • Diagnostic importance of the two-stage factor VIII:C assay demonstrated by a case of mild haemophilia associated with His 1954 →Leu substitution in the factor VIII A3 domain
    • Keeling DM, Sukhu K, Kemball-Cook G, Waseem N, Bagnall R, Lloyd JV. Diagnostic importance of the two-stage factor VIII:C assay demonstrated by a case of mild haemophilia associated with His 1954 →Leu substitution in the factor VIII A3 domain. Br J Haematol 1999; 105: 1123-6.
    • (1999) Br J Haematol , vol.105 , pp. 1123-1126
    • Keeling, D.M.1    Sukhu, K.2    Kemball-Cook, G.3    Waseem, N.4    Bagnall, R.5    Lloyd, J.V.6
  • 12
    • 0034086972 scopus 로고    scopus 로고
    • Assay discrepancy in mild haemophilia A due to a factor VIII missense mutation (Asn694Ile) in a large Danish family
    • Schwaab R, Oldenburg J, Kemball-Cook G, et al. Assay discrepancy in mild haemophilia A due to a factor VIII missense mutation (Asn694Ile) in a large Danish family. Br J Haematol 2000; 109: 523-8.
    • (2000) Br J Haematol , vol.109 , pp. 523-528
    • Schwaab, R.1    Oldenburg, J.2    Kemball-Cook, G.3
  • 13
    • 4243543147 scopus 로고    scopus 로고
    • Altered sensitivity towards factor IXa explains assay discrepancies in plasma of haemophilia A patients with a Glu 720 →Lys substitution in factor VIII
    • Abstract 5
    • Roelse JC, de Laaf RTM, Mertens K, van Mourik JA, Oldenburg J, Voorberg J. Altered sensitivity towards factor IXa explains assay discrepancies in plasma of haemophilia A patients with a Glu 720 →Lys substitution in factor VIII. Thromb Haemost 1999; Suppl: Abstract 5.
    • (1999) Thromb Haemost , Issue.SUPPL.
    • Roelse, J.C.1    de Laaf, R.T.M.2    Mertens, K.3    van Mourik, J.A.4    Oldenburg, J.5    Voorberg, J.6
  • 14
    • 4243553807 scopus 로고    scopus 로고
    • Unusual discrepant factor VIII:C assays in haemophilia A patients with Tyr346Cys and Glu321Lys FVIII gene mutations
    • Abstract P1370
    • Goodeve AC, Hinks JL, Nesbitt IM, et al. Unusual discrepant factor VIII:C assays in haemophilia A patients with Tyr346Cys and Glu321Lys FVIII gene mutations. Thromb Haemost 2001; Suppl: Abstract P1370.
    • (2001) Thromb Haemost , Issue.SUPPL.
    • Goodeve, A.C.1    Hinks, J.L.2    Nesbitt, I.M.3
  • 16
    • 0032932325 scopus 로고    scopus 로고
    • Mild hemophilia A caused by increased rate of factor VIII A2 subunit dissociation: Evidence for nonproteolytic inactivation of factor VIIIa in vivo
    • Pipe SW, Eickhorst AN, McKinley SH, Saenko EL, Kaufman RJ. Mild hemophilia A caused by increased rate of factor VIII A2 subunit dissociation: Evidence for nonproteolytic inactivation of factor VIIIa in vivo. Blood 1999; 93: 176-83.
    • (1999) Blood , vol.93 , pp. 176-183
    • Pipe, S.W.1    Eickhorst, A.N.2    McKinley, S.H.3    Saenko, E.L.4    Kaufman, R.J.5
  • 17
    • 0035254221 scopus 로고    scopus 로고
    • Hemophilia A mutations associated with 1-stage/2-stage activity discrepancy disrupt protein-protein interactions within the triplicated A domains of thrombin-activated factor VIIIa
    • Pipe SW, Saenko EL, Eickhorst AN, Kembal-Cook G, Kaufman RJ. Hemophilia A mutations associated with 1-stage/2-stage activity discrepancy disrupt protein-protein interactions within the triplicated A domains of thrombin-activated factor VIIIa. Blood 2001; 97: 685-91.
    • (2001) Blood , vol.97 , pp. 685-691
    • Pipe, S.W.1    Saenko, E.L.2    Eickhorst, A.N.3    Kembal-Cook, G.4    Kaufman, R.J.5
  • 18
    • 33846922115 scopus 로고    scopus 로고
    • Inhibitor development in one patient and laboratory discrepancies in several families with both mild haemophilia and Arg531Cys mutation
    • Cid AR, Casaña P, Cabrera N, Haya S, Cortina V, Aznar JA. Inhibitor development in one patient and laboratory discrepancies in several families with both mild haemophilia and Arg531Cys mutation. Haemophilia 2007; 13: 206-8.
    • (2007) Haemophilia , vol.13 , pp. 206-208
    • Cid, A.R.1    Casaña, P.2    Cabrera, N.3    Haya, S.4    Cortina, V.5    Aznar, J.A.6
  • 19
    • 0028887059 scopus 로고
    • Characterization of mutations within the factor VIII gene of 73 unrelated mild and moderate haemophiliacs
    • Schwaab R, Oldenburg J, Schwaab U, et al. Characterization of mutations within the factor VIII gene of 73 unrelated mild and moderate haemophiliacs. Br J Haematol 1995; 91: 458-64.
    • (1995) Br J Haematol , vol.91 , pp. 458-464
    • Schwaab, R.1    Oldenburg, J.2    Schwaab, U.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.