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Volumn 39, Issue 6, 2013, Pages 607-612

Parahemophilia: New insights into factor v deficiency

Author keywords

bleeding phenotype; factor V; factor V deficiency; hemostasis

Indexed keywords

ACTIVATED PROTEIN C; ACTIVATED PROTHROMBIN COMPLEX; AMINOCAPROIC ACID; ANTIFIBRINOLYTIC AGENT; BLOOD CLOTTING FACTOR 5; COMPLEMENTARY DNA; ENDOPLASMIC RETICULUM GOLGI INTERMEDIATE COMPARTMENT PROTEIN 53; FRESH FROZEN PLASMA; GESTAGEN; MESSENGER RNA; ORAL CONTRACEPTIVE AGENT; PROTHROMBIN COMPLEX; THROMBOCYTE FACTOR 5; TISSUE FACTOR PATHWAY INHIBITOR; TRANEXAMIC ACID;

EID: 84883236723     PISSN: 00946176     EISSN: 10989064     Source Type: Journal    
DOI: 10.1055/s-0033-1349224     Document Type: Article
Times cited : (47)

References (43)
  • 1
    • 49749220896 scopus 로고
    • Parahaemophila: Haemorrhagic diathesis due to absence of a previously unknown clotting factor
    • Owren P. A. Parahaemophila: haemorrhagic diathesis due to absence of a previously unknown clotting factor. Lancet: 1947; 249 446 448
    • (1947) Lancet , vol.249 , pp. 446-448
    • Owren, P.A.1
  • 2
    • 0141673371 scopus 로고    scopus 로고
    • The discovery of factor V: A tricky clotting factor
    • Stormorken H. The discovery of factor V: a tricky clotting factor. J Thromb Haemost: 2003; 1 2 206 213
    • (2003) J Thromb Haemost , vol.1 , Issue.2 , pp. 206-213
    • Stormorken, H.1
  • 3
    • 0037220079 scopus 로고    scopus 로고
    • Factor V: A combination of Dr Jekyll and Mr Hyde
    • Mann K. G., Kalafatis M. Factor V: a combination of Dr Jekyll and Mr Hyde. Blood: 2003; 101 1 20 30
    • (2003) Blood , vol.101 , Issue.1 , pp. 20-30
    • Mann, K.G.1    Kalafatis, M.2
  • 4
    • 77449128728 scopus 로고    scopus 로고
    • The molecular basis of factor v and VIII procofactor activation
    • Camire R. M., Bos M. HA. The molecular basis of factor V and VIII procofactor activation. J Thromb Haemost: 2009; 7 12 1951 1961
    • (2009) J Thromb Haemost , vol.7 , Issue.12 , pp. 1951-1961
    • Camire, R.M.1    Bos, M.H.2
  • 5
    • 0026755597 scopus 로고
    • Structure of the gene for human coagulation factor v
    • Cripe L. D., Moore K. D., Kane W. H. Structure of the gene for human coagulation factor V. Biochemistry: 1992; 31 15 3777 3785
    • (1992) Biochemistry , vol.31 , Issue.15 , pp. 3777-3785
    • Cripe, L.D.1    Moore, K.D.2    Kane, W.H.3
  • 6
    • 0004484218 scopus 로고
    • Cloning of a cDNA coding for human factor V, a blood coagulation factor homologous to factor VIII and ceruloplasmin
    • Kane W. H., Davie E. W. Cloning of a cDNA coding for human factor V, a blood coagulation factor homologous to factor VIII and ceruloplasmin. Proc Natl Acad Sci U S A: 1986; 83 18 6800 6804
    • (1986) Proc Natl Acad Sci U S A , vol.83 , Issue.18 , pp. 6800-6804
    • Kane, W.H.1    Davie, E.W.2
  • 7
    • 0008912897 scopus 로고
    • Complete cDNA and derived amino acid sequence of human factor v
    • Jenny R. J., Pittman D. D., Toole J. J., et al. Complete cDNA and derived amino acid sequence of human factor V. Proc Natl Acad Sci U S A: 1987; 84 14 4846 4850
    • (1987) Proc Natl Acad Sci U S A , vol.84 , Issue.14 , pp. 4846-4850
    • Jenny, R.J.1    Pittman, D.D.2    Toole, J.J.3
  • 8
    • 0023203518 scopus 로고
    • Cloning of cDNAs coding for the heavy chain region and connecting region of human factor V, a blood coagulation factor with four types of internal repeats
    • Kane W. H., Ichinose A., Hagen F. S., Davie E. W. Cloning of cDNAs coding for the heavy chain region and connecting region of human factor V, a blood coagulation factor with four types of internal repeats. Biochemistry: 1987; 26 20 6508 6514
    • (1987) Biochemistry , vol.26 , Issue.20 , pp. 6508-6514
    • Kane, W.H.1    Ichinose, A.2    Hagen, F.S.3    Davie, E.W.4
  • 9
    • 0021329431 scopus 로고
    • Biosynthesis of coagulation Factor v by a human hepatocellular carcinoma cell line
    • Wilson D. B., Salem H. H., Mruk J. S., Maruyama I., Majerus P. W. Biosynthesis of coagulation Factor V by a human hepatocellular carcinoma cell line. J Clin Invest: 1984; 73 3 654 658
    • (1984) J Clin Invest , vol.73 , Issue.3 , pp. 654-658
    • Wilson, D.B.1    Salem, H.H.2    Mruk, J.S.3    Maruyama, I.4    Majerus, P.W.5
  • 10
    • 0025880601 scopus 로고
    • Expression of coagulation factor v gene by normal adult human hepatocytes in primary culture
    • Mazzorana M., Baffet G., Kneip B., Launois B., Guguen-Guillouzo C. Expression of coagulation factor V gene by normal adult human hepatocytes in primary culture. Br J Haematol: 1991; 78 2 229 235
    • (1991) Br J Haematol , vol.78 , Issue.2 , pp. 229-235
    • Mazzorana, M.1    Baffet, G.2    Kneip, B.3    Launois, B.4    Guguen-Guillouzo, C.5
  • 11
    • 0019977242 scopus 로고
    • Radioimmunoassay of factor v in human plasma and platelets
    • Tracy P. B., Eide L. L., Bowie E. JW, Mann K. G. Radioimmunoassay of factor V in human plasma and platelets. Blood: 1982; 60 1 59 63
    • (1982) Blood , vol.60 , Issue.1 , pp. 59-63
    • Tracy, P.B.1    Eide, L.L.2    Bowie, E.J.3    Mann, K.G.4
  • 12
    • 0025311157 scopus 로고
    • Surface-dependent reactions of the vitamin K-dependent enzyme complexes
    • Mann K. G., Nesheim M. E., Church W. R., Haley P. E., Krishnaswamy S. Surface-dependent reactions of the vitamin K-dependent enzyme complexes. Blood: 1990; 76 1 1 16
    • (1990) Blood , vol.76 , Issue.1 , pp. 1-16
    • Mann, K.G.1    Nesheim, M.E.2    Church, W.R.3    Haley, P.E.4    Krishnaswamy, S.5
  • 14
    • 67049155766 scopus 로고    scopus 로고
    • Advances in understanding the bleeding diathesis in factor v deficiency
    • Duckers C., Simioni P., Rosing J., Castoldi E. Advances in understanding the bleeding diathesis in factor V deficiency. Br J Haematol: 2009; 146 1 17 26
    • (2009) Br J Haematol , vol.146 , Issue.1 , pp. 17-26
    • Duckers, C.1    Simioni, P.2    Rosing, J.3    Castoldi, E.4
  • 15
    • 0029854371 scopus 로고    scopus 로고
    • Fatal haemorrhage and incomplete block to embryogenesis in mice lacking coagulation factor v
    • Cui J., O'Shea K. S., Purkayastha A., Saunders T. L., Ginsburg D. Fatal haemorrhage and incomplete block to embryogenesis in mice lacking coagulation factor V. Nature: 1996; 384 6604 66 68
    • (1996) Nature , vol.384 , Issue.6604 , pp. 66-68
    • Cui, J.1    O'Shea, K.S.2    Purkayastha, A.3    Saunders, T.L.4    Ginsburg, D.5
  • 17
    • 4444364103 scopus 로고    scopus 로고
    • Rare Bleeding Disorder Registry: Deficiencies of factors II, V, VII, X, XIII, fibrinogen and dysfibrinogenemias
    • North American Rare Bleeding Disorder Study Group
    • Acharya S. S., Coughlin A., Dimichele D. M. North American Rare Bleeding Disorder Study Group Rare Bleeding Disorder Registry: deficiencies of factors II, V, VII, X, XIII, fibrinogen and dysfibrinogenemias. J Thromb Haemost: 2004; 2 2 248 256
    • (2004) J Thromb Haemost , vol.2 , Issue.2 , pp. 248-256
    • Acharya, S.S.1    Coughlin, A.2    Dimichele, D.M.3
  • 18
    • 61849174315 scopus 로고    scopus 로고
    • Recent developments in the understanding of the combined deficiency of FV and FVIII
    • Zhang B. Recent developments in the understanding of the combined deficiency of FV and FVIII. Br J Haematol: 2009; 145 1 15 23
    • (2009) Br J Haematol , vol.145 , Issue.1 , pp. 15-23
    • Zhang, B.1
  • 19
    • 0038278822 scopus 로고    scopus 로고
    • Bleeding due to disruption of a cargo-specific ER-to-Golgi transport complex
    • Zhang B., Cunningham M. A., Nichols W. C., et al. Bleeding due to disruption of a cargo-specific ER-to-Golgi transport complex. Nat Genet: 2003; 34 2 220 225
    • (2003) Nat Genet , vol.34 , Issue.2 , pp. 220-225
    • Zhang, B.1    Cunningham, M.A.2    Nichols, W.C.3
  • 20
    • 0031028363 scopus 로고    scopus 로고
    • Linkage of combined factors v and VIII deficiency to chromosome 18q by homozygosity mapping
    • Nichols W. C., Seligsohn U., Zivelin A., et al. Linkage of combined factors V and VIII deficiency to chromosome 18q by homozygosity mapping. J Clin Invest: 1997; 99 4 596 601
    • (1997) J Clin Invest , vol.99 , Issue.4 , pp. 596-601
    • Nichols, W.C.1    Seligsohn, U.2    Zivelin, A.3
  • 21
    • 0030762916 scopus 로고    scopus 로고
    • The locus for combined factor V-factor VIII deficiency (F5F8D) maps to 18q21, between D18S849 and D18S1103
    • Neerman-Arbez M., Antonarakis S. E., Blouin J. L., et al. The locus for combined factor V-factor VIII deficiency (F5F8D) maps to 18q21, between D18S849 and D18S1103. Am J Hum Genet: 1997; 61 1 143 150
    • (1997) Am J Hum Genet , vol.61 , Issue.1 , pp. 143-150
    • Neerman-Arbez, M.1    Antonarakis, S.E.2    Blouin, J.L.3
  • 22
    • 80051795373 scopus 로고    scopus 로고
    • Acquired factor v inhibitors: A systematic review
    • Franchini M., Lippi G. Acquired factor V inhibitors: a systematic review. J Thromb Thrombolysis: 2011; 31 4 449 457
    • (2011) J Thromb Thrombolysis , vol.31 , Issue.4 , pp. 449-457
    • Franchini, M.1    Lippi, G.2
  • 23
    • 0033117450 scopus 로고    scopus 로고
    • Clinical and laboratory manifestations of anti-factor v antibodies
    • Ortel T. L. Clinical and laboratory manifestations of anti-factor V antibodies. J Lab Clin Med: 1999; 133 4 326 334
    • (1999) J Lab Clin Med , vol.133 , Issue.4 , pp. 326-334
    • Ortel, T.L.1
  • 24
    • 69249235449 scopus 로고    scopus 로고
    • Impaired platelet procoagulant mechanisms in patients with bleeding disorders
    • Weiss H. J. Impaired platelet procoagulant mechanisms in patients with bleeding disorders. Semin Thromb Hemost: 2009; 35 2 233 241
    • (2009) Semin Thromb Hemost , vol.35 , Issue.2 , pp. 233-241
    • Weiss, H.J.1
  • 25
    • 81755172551 scopus 로고    scopus 로고
    • Quebec platelet disorder: Update on pathogenesis, diagnosis, and treatment
    • Blavignac J., Bunimov N., Rivard G. E., Hayward C. P. Quebec platelet disorder: update on pathogenesis, diagnosis, and treatment. Semin Thromb Hemost: 2011; 37 6 713 720
    • (2011) Semin Thromb Hemost , vol.37 , Issue.6 , pp. 713-720
    • Blavignac, J.1    Bunimov, N.2    Rivard, G.E.3    Hayward, C.P.4
  • 26
    • 0028991757 scopus 로고
    • Factor VNew Brunswick: Ala221-to-Val substitution results in reduced cofactor activity
    • ThoMurray J. M., Rand M. D., Egan J. O., Murphy S., Kim H. C., Mann K. G. Factor VNew Brunswick: Ala221-to-Val substitution results in reduced cofactor activity. Blood: 1995; 86 5 1820 1827
    • (1995) Blood , vol.86 , Issue.5 , pp. 1820-1827
    • Thomurray, J.M.1    Rand, M.D.2    Egan, J.O.3    Murphy, S.4    Kim, H.C.5    Mann, K.G.6
  • 27
    • 84857108277 scopus 로고    scopus 로고
    • Functional characterization of a novel missense mutation identified in a Turkish patient affected by severe coagulation factor v deficiency
    • Paraboschi E. M., Kayiran S. M., Özbek N., et al. Functional characterization of a novel missense mutation identified in a Turkish patient affected by severe coagulation factor V deficiency. Haemophilia: 2012; 18 2 205 210
    • (2012) Haemophilia , vol.18 , Issue.2 , pp. 205-210
    • Paraboschi, E.M.1    Kayiran, S.M.2    Özbek, N.3
  • 28
    • 0032442129 scopus 로고    scopus 로고
    • Symptoms of inherited factor v deficiency in 35 Iranian patients
    • Lak M., Sharifian R., Peyvandi F., Mannucci P. M. Symptoms of inherited factor V deficiency in 35 Iranian patients. Br J Haematol: 1998; 103 4 1067 1069
    • (1998) Br J Haematol , vol.103 , Issue.4 , pp. 1067-1069
    • Lak, M.1    Sharifian, R.2    Peyvandi, F.3    Mannucci, P.M.4
  • 29
    • 69949091321 scopus 로고    scopus 로고
    • Factor 5 mutation profile in German patients with homozygous and heterozygous factor v deficiency
    • Delev D., Pavlova A., Heinz S., Seifried E., Oldenburg J. Factor 5 mutation profile in German patients with homozygous and heterozygous factor V deficiency. Haemophilia: 2009; 15 5 1143 1153
    • (2009) Haemophilia , vol.15 , Issue.5 , pp. 1143-1153
    • Delev, D.1    Pavlova, A.2    Heinz, S.3    Seifried, E.4    Oldenburg, J.5
  • 30
    • 18244417756 scopus 로고    scopus 로고
    • Molecular recognition in the protein C anticoagulant pathway
    • Dahlbäck B., Villoutreix B. O. Molecular recognition in the protein C anticoagulant pathway. J Thromb Haemost: 2003; 1 7 1525 1534
    • (2003) J Thromb Haemost , vol.1 , Issue.7 , pp. 1525-1534
    • Dahlbäck, B.1    Villoutreix, B.O.2
  • 31
    • 0029872862 scopus 로고    scopus 로고
    • "pseudo homozygouso" activated protein C resistance due to double heterozygous factor v defects (factor v Leiden mutation and type i quantitative factor v defect) associated with thrombosis: Report of two cases belonging to two unrelated kindreds
    • Simioni P., Scudeller A., Radossi P., et al. "Pseudo homozygouso" activated protein C resistance due to double heterozygous factor V defects (factor V Leiden mutation and type I quantitative factor V defect) associated with thrombosis: report of two cases belonging to two unrelated kindreds. Thromb Haemost: 1996; 75 3 422 426
    • (1996) Thromb Haemost , vol.75 , Issue.3 , pp. 422-426
    • Simioni, P.1    Scudeller, A.2    Radossi, P.3
  • 32
    • 0032212180 scopus 로고    scopus 로고
    • Secretable human platelet-derived factor v originates from the plasma pool
    • Camire R. M., Pollak E. S., Kaushansky K., Tracy P. B. Secretable human platelet-derived factor V originates from the plasma pool. Blood: 1998; 92 9 3035 3041
    • (1998) Blood , vol.92 , Issue.9 , pp. 3035-3041
    • Camire, R.M.1    Pollak, E.S.2    Kaushansky, K.3    Tracy, P.B.4
  • 33
    • 0242362225 scopus 로고    scopus 로고
    • Endogenous factor v synthesis in megakaryocytes contributes negligibly to the platelet factor v pool
    • Thomassen M. C., Castoldi E., Tans G., et al. Endogenous factor V synthesis in megakaryocytes contributes negligibly to the platelet factor V pool. Haematologica: 2003; 88 10 1150 1156
    • (2003) Haematologica , vol.88 , Issue.10 , pp. 1150-1156
    • Thomassen, M.C.1    Castoldi, E.2    Tans, G.3
  • 34
    • 23944475195 scopus 로고    scopus 로고
    • Megakaryocytes endocytose and subsequently modify human factor v in vivo to form the entire pool of a unique platelet-derived cofactor
    • Gould W. R., Simioni P., Silveira J. R., Tormene D., Kalafatis M., Tracy P. B. Megakaryocytes endocytose and subsequently modify human factor V in vivo to form the entire pool of a unique platelet-derived cofactor. J Thromb Haemost: 2005; 3 3 450 456
    • (2005) J Thromb Haemost , vol.3 , Issue.3 , pp. 450-456
    • Gould, W.R.1    Simioni, P.2    Silveira, J.R.3    Tormene, D.4    Kalafatis, M.5    Tracy, P.B.6
  • 35
    • 23944447695 scopus 로고    scopus 로고
    • Endocytosis of plasma-derived factor v by megakaryocytes occurs via a clathrin-dependent, specific membrane binding event
    • Bouchard B. A., Williams J. L., Meisler N. T., Long M. W., Tracy P. B. Endocytosis of plasma-derived factor V by megakaryocytes occurs via a clathrin-dependent, specific membrane binding event. J Thromb Haemost: 2005; 3 3 541 551
    • (2005) J Thromb Haemost , vol.3 , Issue.3 , pp. 541-551
    • Bouchard, B.A.1    Williams, J.L.2    Meisler, N.T.3    Long, M.W.4    Tracy, P.B.5
  • 36
    • 40949113575 scopus 로고    scopus 로고
    • A unique function for LRP-1: A component of a two-receptor system mediating specific endocytosis of plasma-derived factor v by megakaryocytes
    • Bouchard B. A., Meisler N. T., Nesheim M. E., Liu C. X., Strickland D. K., Tracy P. B. A unique function for LRP-1: a component of a two-receptor system mediating specific endocytosis of plasma-derived factor V by megakaryocytes. J Thromb Haemost: 2008; 6 4 638 644
    • (2008) J Thromb Haemost , vol.6 , Issue.4 , pp. 638-644
    • Bouchard, B.A.1    Meisler, N.T.2    Nesheim, M.E.3    Liu, C.X.4    Strickland, D.K.5    Tracy, P.B.6
  • 37
    • 1642576099 scopus 로고    scopus 로고
    • Unique in vivo modifications of coagulation factor v produce a physically and functionally distinct platelet-derived cofactor: Characterization of purified platelet-derived factor V/Va
    • Gould W. R., Silveira J. R., Tracy P. B. Unique in vivo modifications of coagulation factor V produce a physically and functionally distinct platelet-derived cofactor: characterization of purified platelet-derived factor V/Va. J Biol Chem: 2004; 279 4 2383 2393
    • (2004) J Biol Chem , vol.279 , Issue.4 , pp. 2383-2393
    • Gould, W.R.1    Silveira, J.R.2    Tracy, P.B.3
  • 38
    • 77949321986 scopus 로고    scopus 로고
    • Residual platelet factor v ensures thrombin generation in patients with severe congenital factor v deficiency and mild bleeding symptoms
    • Duckers C., Simioni P., Spiezia L., et al. Residual platelet factor V ensures thrombin generation in patients with severe congenital factor V deficiency and mild bleeding symptoms. Blood: 2010; 115 4 879 886
    • (2010) Blood , vol.115 , Issue.4 , pp. 879-886
    • Duckers, C.1    Simioni, P.2    Spiezia, L.3
  • 39
    • 79955656385 scopus 로고    scopus 로고
    • Homozygous F5 deep-intronic splicing mutation resulting in severe factor v deficiency and undetectable thrombin generation in platelet-rich plasma
    • Castoldi E., Duckers C., Radu C., et al. Homozygous F5 deep-intronic splicing mutation resulting in severe factor V deficiency and undetectable thrombin generation in platelet-rich plasma. J Thromb Haemost: 2011; 9 5 959 968
    • (2011) J Thromb Haemost , vol.9 , Issue.5 , pp. 959-968
    • Castoldi, E.1    Duckers, C.2    Radu, C.3
  • 40
    • 0033978610 scopus 로고    scopus 로고
    • Rescue of fatal neonatal hemorrhage in factor v deficient mice by low level transgene expression
    • Yang T. L., Cui J., Taylor J. M., Yang A., Gruber S. B., Ginsburg D. Rescue of fatal neonatal hemorrhage in factor V deficient mice by low level transgene expression. Thromb Haemost: 2000; 83 1 70 77
    • (2000) Thromb Haemost , vol.83 , Issue.1 , pp. 70-77
    • Yang, T.L.1    Cui, J.2    Taylor, J.M.3    Yang, A.4    Gruber, S.B.5    Ginsburg, D.6
  • 41
    • 0033969069 scopus 로고    scopus 로고
    • How much factor v is enough
    • Mann K. G. How much factor V is enough? Thromb Haemost: 2000; 83 1 3 4
    • (2000) Thromb Haemost , vol.83 , Issue.1 , pp. 3-4
    • Mann, K.G.1
  • 42
    • 55749097952 scopus 로고    scopus 로고
    • Low plasma levels of tissue factor pathway inhibitor in patients with congenital factor v deficiency
    • Duckers C., Simioni P., Spiezia L., et al. Low plasma levels of tissue factor pathway inhibitor in patients with congenital factor V deficiency. Blood: 2008; 112 9 3615 3623
    • (2008) Blood , vol.112 , Issue.9 , pp. 3615-3623
    • Duckers, C.1    Simioni, P.2    Spiezia, L.3
  • 43
    • 77957337770 scopus 로고    scopus 로고
    • A novel compensating mechanism for homozygous coagulation factor v deficiency suggested by enhanced activated partial thromboplastin time after reconstitution with normal factor v
    • Talbot K., Song J., Hewitt J., et al. A novel compensating mechanism for homozygous coagulation factor V deficiency suggested by enhanced activated partial thromboplastin time after reconstitution with normal factor V. Br J Haematol: 2010; 151 2 198 200
    • (2010) Br J Haematol , vol.151 , Issue.2 , pp. 198-200
    • Talbot, K.1    Song, J.2    Hewitt, J.3


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