Clinical studies and thrombin generation in patients homozygous or heterozygous for the G20210A mutation in the prothrombin gene

Arteriosclerosis, Thrombosis, and Vascular Biology

Volumn 18, Issue 8, 1998, Pages 1287-1291

  Kyrle, Paul A ^a,e   Mannhalter, Christine ^b   Béguin, Suzette ^c   Stümpflen, Andreas ^b   Hirschl, Mirko ^d   Weltermann, Ansgar ^a   Stain, Milena ^a   Brenner, Brigitte ^a   Speiser, Wolfgang ^b   Pabinger, Ingrid ^a   Lechner, Klaus ^a   Eichinger, Sabine ^a  

^a MEDICAL UNIVERSITY OF VIENNA   (Austria)

^b UNIVERSITY OF VIENNA   (Austria)

^c MAASTRICHT UNIVERSITY   (Netherlands)

^d HANUSCH HOSPITAL   (Austria)

^e UNIVERSITY OF VIENNA   (Austria)

Author keywords

Deep vein thrombosis; Endogenous thrombin potential; G20210A prothrombin mutation; Prothrombin fragment F1 + 2

Indexed keywords

PROTHROMBIN; THROMBIN;

ALLELE; ARTICLE; DEEP VEIN THROMBOSIS; GENE MUTATION; GENETIC RISK; GENETIC VARIABILITY; HEMOSTASIS; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; PHENOTYPE; PREVALENCE; PRIORITY JOURNAL; RISK FACTOR;

EID: 17344373283     PISSN: 10795642     EISSN: None     Source Type: Journal    
DOI: 10.1161/01.ATV.18.8.1287     Document Type: Article

References (24)

1. Poort SR, Rosendaal FR, Reitsma PH, Bertina RM. A common genetic variation in the 3′-translated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis. Blood. 1996;88:3698-3700.
2. Hillarp, A, Zöller B, Svensson PJ, Dahlbäck. The 20210 A allele of the prothrombin gene is a common risk factor among Swedish outpatients with verified deep venous thrombosis. Thromb Haemost. 1997;78:990-902.
3. Bertina RM, Koeleman BPC, Koster T, Rosendaal FR, Dirven RJ, de Ronde H, van der Velden PA, Reitsma PH. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature. 1994;369:64-67.
4. Dahlbäck B, Carlsson M, Svensson PJ. Familial thrombophilia due to a previously unrecognized mechanism characterized by poor anticoagulant response to activated protein C. Proc Natl Acad Sci U S A. 1993;90:1004-1008.
5. Bauer KA. Laboratory markers of coagulation activation. Arch Pathol Lab Med. 1993;117:71-77.
6. Bauer KA, Rosenberg RD. The pathophysiology of the prethrombotic state in humans: insights gained from studies using markers of hemostatic system activation. Blood. 1987;70:343-350.
7. Hemker HC, Béguin S. Thrombin generation in plasma: its assessment via the endogenous thrombin potential. Thromb Haemost. 1995;74:134-138.
8. Wielders S, Mukherjee M, Michiels J, Rijkers DTS, Cambus JP, Knebel RWC, Kakkar V, Hemker HC, Béguin S. The routine determination of the endogenous thrombin potential: first results in different forms of hyper- and hypocoagulability. Thromb Haemost. 1997;77:629-636.
9. Mari D, Mannucci M, Coppola R, Bottasso B, Bauer KA, Rosenberg RD. Hypercoagulability in centenarians: the paradox of successful aging. Blood. 1995;85:3144-3149.
10. Branson HE, Katz J, Marble R, Griffin JH. Inherited protein C deficiency and coumarin-responsive chronic relapsing purpura fulminans in a newborn infant. Lancet. 1983;2:1165-1168.
11. Seligsohn U, Berger A, Abend, Rubin L, Attias D, Zivelin A Rapaport SI. Homozygous protein C deficiency manifested by massive venous thrombosis in the newborn. N Engl J Med. 1984;310:559-562.
12. Mahasandana C, Suvatte V, Chuansumrit AS, Marlar RA, Manco-Johnson MJ, Jacobson LJ, Hathaway WE. Homozygous protein S deficiency in an infant with purpura fulminans. J Pediatr. 1990;117:750-753.
13. Lane DA, Mannucci PM, Bauer KA, Bertina RM, Bochkov NP, Boulyenkov V, Chandy M, Dahlbäck B, Ginter EK, Miletich JP, Rosendaal FR, Seligsohn U. Inherited thrombophilia: part 2. Thromb Haemost. 1996;76:824-834.
14. Conard J, Bauer KA, Gruber A, Griffin JH, Schwarz HP, Horellou MH, Samama MM, Rosenberg RD. Normalization of markers of coagulation activation with a purified protein C concentrate in adults with homozygous protein C deficiency. Blood. 1993;82:1159-1164.
15. Bauer KA, Broekmans AW, Bertina RM, Conard J, Horellou MH, Samama MM, Rosenberg RD. Hemostatic enzyme generation in the blood of patients with hereditary protein C deficiency. Blood. 1988;71:1418-1426.
16. Mannucci PM, Tripodi A, Bottasso B, Baudo F, Finazzi G, De Stefano V, Palareti G, Manotti C, Nazzucconi MG, Castaman G. Markers of procoagulant imbalance in patients with inherited thrombophilic syndromes. Thromb Haemost. 1992;67:200-202.
17. 506 to Gin mutation in the factor V gene (APC-resistance) and/or inherited protein S deficiency. Thromb Haemost. 1996;75:270-274.
18. Martinelli I, Bottasso B, Duca F, Faioni E, Mannucci PM. Heightened thrombin generation in individuals with resistance to activated protein C. Thromb Haemost. 1996;75:703-705.
19. Kyrle PA, Eichinger S, Pabinger I, Stümpflen A, Hirschl M, Bialonczyk C, Schneider B, Mannhalter C, Melichart M, Traxler G, Weltermann A, Speiser W, Lechner K. Prothrombin fragment F1+2 is not predictive for recurrent venous thromboembolism. Thromb Haemost. 1997;77:829-833.
20. Kyrle PA, Stümpflen A, Hirschl M, Bialonczyk C, Herkner K, Speiser W, Weltermann A, Kaider A Pabinger I, Lechner K, Eichinger S. Levels of prothrombin fragment F1+2 in patients with hyperhomocysteinemia and a history of venous thromboembolism. Thromb Haemost. 1997;78:1327-1331.
21. Bendetowicz AV, Kai H, Knebel R, Caplain H, Hemker HC, Lindhout T, Béguin S. The effect of subcutaneous injection of unfractionated and low molecular weight heparin on thrombin generation in platelet rich plasma: a study in human volunteers. Thromb Haemost. 1994;71:305-313.
22. Kessels H, Béguin S, Andree H, Hemker HC. Measurement of thrombin generation in whole blood: the effect of heparin and aspirin. Thromb Haemost. 1994;72:78-83.
23. Rotteveel RC, Roozendaal KJ, Eijsman L, Hemker HC. The influence of oral contraceptives on the time-integral of thrombin generation (thrombin potential). Thromb Haemost. 1993;70:959-962.
24. Duchemin J, Pittet JL, Tartary M, Béguin S, Gaussem P, Alenc-Gelas M, Aiach M. A new assay based on thrombin generation inhibition to detect both protein S and protein C deficiencies in plasma. Thromb Haemost. 1994;71:331-338.