메뉴 건너뛰기




Volumn 9, Issue 3, 2011, Pages 524-530

Prevalence, biological phenotype and genotype in moderate/mild hemophilia A with discrepancy between one-stage and chromogenic factorVIII activity

Author keywords

Chromogenic factor VIII:C assay; Coagulation factor VIII; Discrepant mild hemophilia; Gene mutations

Indexed keywords

BLOOD CLOTTING FACTOR 8C; CHROMOGENIC SUBSTRATE; DNA;

EID: 79952045233     PISSN: 15387933     EISSN: 15387836     Source Type: Journal    
DOI: 10.1111/j.1538-7836.2010.04174.x     Document Type: Article
Times cited : (45)

References (28)
  • 2
    • 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. 202-6
    • Parquet-Gernez, A.1    Mazurier, C.2    Goudemand, M.3
  • 3
    • 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. 846-8
    • Duncan, E.M.1    Duncan, B.M.2    Tunbridge, L.J.3    Lloyd, J.V.4
  • 4
    • 0033065031 scopus 로고    scopus 로고
    • Diagnostic importance of the two-stage factor VIII:C assay demonstrated by a case of mild haemophilia associated with His1954→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 His1954→Leu substitution in the factor VIII A3 domain. Br J Haematol 1999; 105: 1123-6.
    • (1999) Br J Haematol , vol.105 , pp. 1123-6
    • Keeling, D.M.1    Sukhu, K.2    Kemball-Cook, G.3    Waseem, N.4    Bagnall, R.5    Lloyd, J.V.6
  • 5
    • 0011380826 scopus 로고    scopus 로고
    • Discrepant one and two stage FVIII assays are very common in mild haemophilia A correlation with FVIII gene mutations
    • Abstract 195.
    • Nesbitt I, Kinks J, Sampson B, Kitchen S, Peake I, Makris M, Goodeve A. Discrepant one and two stage FVIII assays are very common in mild haemophilia A correlation with FVIII gene mutations. Thromb Haemost 2001; 84: Abstract 195.
    • (2001) Thromb Haemost , vol.84
    • Nesbitt, I.1    Kinks, J.2    Sampson, B.3    Kitchen, S.4    Peake, I.5    Makris, M.6    Goodeve, A.7
  • 6
    • 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, Kemball-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. 685-91
    • Pipe, S.W.1    Saenko, E.L.2    Eickhorst, A.N.3    Kemball-Cook, G.4    Kaufman, R.J.5
  • 7
    • 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. 400-6
    • Rudzki, Z.1    Duncan, E.M.2    Casey, G.J.3    Neumann, M.4    Favaloro, E.J.5    Lloyd, J.V.6
  • 9
  • 10
    • 0035982216 scopus 로고    scopus 로고
    • A Tyr346→Cys substitution in the interdomain acidic region a1 of factor VIII in an individual with factor VIII:C assay discrepancy
    • Mumford AD, Laffan M, O'Donnell J, McVey JH, Johnson DJ, Manning RA, Kemball-Cook G. A Tyr346→Cys substitution in the interdomain acidic region a1 of factor VIII in an individual with factor VIII:C assay discrepancy. Br J Haematol 2002; 118: 589-94.
    • (2002) Br J Haematol , vol.118 , pp. 589-94
    • Mumford, A.D.1    Laffan, M.2    O'Donnell, J.3    McVey, J.H.4    Johnson, D.J.5    Manning, R.A.6    Kemball-Cook, G.7
  • 11
    • 4243543147 scopus 로고    scopus 로고
    • Altered sensitivity towards factor IXa explains assays discrepancy in plasma of haemophilia A patients with GLU720LYS substitution in factor VIII
    • Abstract 5.
    • Roelse J, Mertens K, van Mourik J, Oldenburg J, Voorberg J. Altered sensitivity towards factor IXa explains assays discrepancy in plasma of haemophilia A patients with GLU720LYS substitution in factor VIII. Thromb Haemost 1999; 82: Abstract 5.
    • (1999) Thromb Haemost , vol.82
    • Roelse, J.1    Mertens, K.2    van Mourik, J.3    Oldenburg, J.4    Voorberg, J.5
  • 12
    • 51249089221 scopus 로고    scopus 로고
    • One-stage and chromogenic FVIII:C assay discrepancy in mild haemophilia A and the relationship with the mutation and bleeding phenotype
    • Cid AR, Calabuig M, Cortina V, Casana P, Haya S, Moret A, Cabrera N, Aznar JA. One-stage and chromogenic FVIII:C assay discrepancy in mild haemophilia A and the relationship with the mutation and bleeding phenotype. Haemophilia 2008; 14: 1049-54.
    • (2008) Haemophilia , vol.14 , pp. 1049-54
    • Cid, A.R.1    Calabuig, M.2    Cortina, V.3    Casana, P.4    Haya, S.5    Moret, A.6    Cabrera, N.7    Aznar, J.A.8
  • 13
    • 0038441397 scopus 로고    scopus 로고
    • A new ELISA assay for diagnosis of acquired von Willebrand syndrome
    • Siaka C, Rugeri L, Caron C, Goudemand J. A new ELISA assay for diagnosis of acquired von Willebrand syndrome. Haemophilia 2003; 9: 303-8.
    • (2003) Haemophilia , vol.9 , pp. 303-8
    • Siaka, C.1    Rugeri, L.2    Caron, C.3    Goudemand, J.4
  • 14
    • 0031612929 scopus 로고    scopus 로고
    • Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group
    • Antonarakis SE. Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group. Hum Mutat 1998; 11: 1-3.
    • (1998) Hum Mutat , vol.11 , pp. 1-3
    • Antonarakis, S.E.1
  • 15
    • 0042316754 scopus 로고    scopus 로고
    • Standardizing mutation nomenclature: why bother?
    • den Dunnen JT, Paalman MH. Standardizing mutation nomenclature: why bother? Hum Mutat 2003; 22: 181-2.
    • (2003) Hum Mutat , vol.22 , pp. 181-2
    • den Dunnen, J.T.1    Paalman, M.H.2
  • 17
    • 0031828437 scopus 로고    scopus 로고
    • Discrepancies in potency assessment of recombinant FVIII concentrates
    • Barrowcliffe TW, Raut S, Hubbard AR. Discrepancies in potency assessment of recombinant FVIII concentrates. Haemophilia 1998; 4: 634-40.
    • (1998) Haemophilia , vol.4 , pp. 634-40
    • Barrowcliffe, T.W.1    Raut, S.2    Hubbard, A.R.3
  • 18
    • 0018075263 scopus 로고
    • Discrepancy between one-stage and two-stage assay of factor VIII:C
    • Kirkwood TB, Barrowcliffe TW. Discrepancy between one-stage and two-stage assay of factor VIII:C. Br J Haematol 1978; 40: 333-8.
    • (1978) Br J Haematol , vol.40 , pp. 333-8
    • Kirkwood, T.B.1    Barrowcliffe, T.W.2
  • 19
    • 0031047032 scopus 로고    scopus 로고
    • Mutations in the FVIII gene in seven families with mild haemophilia A
    • Mazurier C, Gaucher C, Jorieux S, Parquet-Gernez A. Mutations in the FVIII gene in seven families with mild haemophilia A. Br J Haematol 1997; 96: 426-7.
    • (1997) Br J Haematol , vol.96 , pp. 426-7
    • Mazurier, C.1    Gaucher, C.2    Jorieux, S.3    Parquet-Gernez, A.4
  • 20
    • 16344362284 scopus 로고    scopus 로고
    • Mutation analysis in 51 patients with haemophilia A: report of 10 novel mutations and correlations between genotype and clinical phenotype
    • Hill M, Deam S, Gordon B, Dolan G. Mutation analysis in 51 patients with haemophilia A: report of 10 novel mutations and correlations between genotype and clinical phenotype. Haemophilia 2005; 11: 133-41.
    • (2005) Haemophilia , vol.11 , pp. 133-41
    • Hill, M.1    Deam, S.2    Gordon, B.3    Dolan, G.4
  • 21
    • 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. 176-83
    • Pipe, S.W.1    Eickhorst, A.N.2    McKinley, S.H.3    Saenko, E.L.4    Kaufman, R.J.5
  • 22
    • 33845486921 scopus 로고    scopus 로고
    • In vitro kinetics of factor VIII activity in patients with mild haemophilia A and a discrepancy between one-stage and two-stage factor VIII assay results
    • Rodgers SE, Duncan EM, Barbulescu DM, Quinn DM, Lloyd JV. In vitro kinetics of factor VIII activity in patients with mild haemophilia A and a discrepancy between one-stage and two-stage factor VIII assay results. Br J Haematol 2007; 136: 138-45.
    • (2007) Br J Haematol , vol.136 , pp. 138-45
    • Rodgers, S.E.1    Duncan, E.M.2    Barbulescu, D.M.3    Quinn, D.M.4    Lloyd, J.V.5
  • 23
    • 0037082464 scopus 로고    scopus 로고
    • 3-Dimensional structure of membrane-bound coagulation factor VIII: modeling of the factor VIII heterodimer within a 3-dimensional density map derived by electron crystallography
    • Stoilova-McPhie S, Villoutreix BO, Mertens K, Kemball-Cook G, Holzenburg A. 3-Dimensional structure of membrane-bound coagulation factor VIII: modeling of the factor VIII heterodimer within a 3-dimensional density map derived by electron crystallography. Blood 2002; 99: 1215-23.
    • (2002) Blood , vol.99 , pp. 1215-23
    • Stoilova-McPhie, S.1    Villoutreix, B.O.2    Mertens, K.3    Kemball-Cook, G.4    Holzenburg, A.5
  • 25
    • 37749007969 scopus 로고    scopus 로고
    • Tyr346→Cys mutation results in factor VIII:C assay discrepancy and a normal bleeding phenotype - is this mild haemophilia A?
    • Lyall H, Hill M, Westby J, Grimley C, Dolan G. Tyr346→Cys mutation results in factor VIII:C assay discrepancy and a normal bleeding phenotype - is this mild haemophilia A? Haemophilia 2008; 14: 78-80.
    • (2008) Haemophilia , vol.14 , pp. 78-80
    • Lyall, H.1    Hill, M.2    Westby, J.3    Grimley, C.4    Dolan, G.5
  • 26
    • 39549098650 scopus 로고    scopus 로고
    • Mild hemophilia A with factor VIII assay discrepancy: using thrombin generation assay to assess the bleeding phenotype
    • Trossaert M, Regnault V, Sigaud M, Boisseau P, Fressinaud E, Lecompte T. Mild hemophilia A with factor VIII assay discrepancy: using thrombin generation assay to assess the bleeding phenotype. J Thromb Haemost 2008; 6: 486-93.
    • (2008) J Thromb Haemost , vol.6 , pp. 486-93
    • Trossaert, M.1    Regnault, V.2    Sigaud, M.3    Boisseau, P.4    Fressinaud, E.5    Lecompte, T.6
  • 27
    • 0030045089 scopus 로고    scopus 로고
    • Structural and genetic analysis of the folding and function of T4 lysozyme
    • Matthews BW. Structural and genetic analysis of the folding and function of T4 lysozyme. FASEB J 1996; 10: 35-41.
    • (1996) FASEB J , vol.10 , pp. 35-41
    • Matthews, B.W.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.