Effect of the factor V leiden mutation on the clinical expression of severe hemophilia A

Thrombosis and Haemostasis

Volumn 83, Issue 3, 2000, Pages 387-391

  Lee, David H ^a   Walker, I R ^b   Teitel, J ^c   Poon, M C ^c   Ritchie, B ^c   Akabutu, J ^c   Sinclair, G D ^c   Pai, M ^c   Wu, J W Y ^c   Ready, S ^c   Carter, C ^c   Growe, G ^c   Lillicrap, D ^a   Lam, M ^a   Blajchman, M A ^b  

^a QUEEN S UNIVERSITY   (Canada)

^b MCMASTER UNIVERSITY   (Canada)

^c NONE

Author keywords

Bleeding; Factor V leiden; Hemophilia A

Indexed keywords

ACTIVATED PROTEIN C; BLOOD CLOTTING FACTOR 5 LEIDEN; BLOOD CLOTTING FACTOR 8; BLOOD CLOTTING FACTOR CONCENTRATE;

ADOLESCENT; ADULT; ARTHROPATHY; ARTICLE; BLEEDING; CHILD; DISEASE COURSE; GENE MUTATION; GENOTYPE; HEMOPHILIA A; HUMAN; INTRON; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL;

EID: 0034016852     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-0037-1613824     Document Type: Article

References (24)

1. Hoyer LW, Hemophilia A. N Engl J Med 1994; 330: 38-47.
2. 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: 64-7.
3. 506 of factor V. Lancet 1994; 343: 1535-6.
4. Zöller B, Dahlbäck B. Linkage between inherited resistance to activated protein C and factor V gene mutation in venous thrombosis. Lancet 1994; 343: 1536-8.
5. Zöller B, Svensson PJ, He X, Dahlbäck B. Identification of the same factor V gene mutation in 47 out of 50 thrombosis-prone families with inherited resistance to activated protein C. J Clin Invest 1994; 94: 2521-4.
6. Lee DH, Henderson PA, Blajchman MA. Prevalence of factor V Leiden in a Canadian blood donor population. Can Med Assoc J 1996; 155: 285-9.
7. Ridker PM, Hennekens CH, Lindpaintner K, Stampfer MJ, Eisenberg PR, Miletich JP. Mutation in the gene coding for coagulation factor V and the risk of myocardial infarction, stroke, and venous thrombosis in apparently healthy men. N Engl J Med 1995; 322: 912-7.
8. R506Q. J Biol Chem 1995; 270: 4053-7.
9. 506-factor V. Blood 1995; 85: 3405-11.
10. Kalafatis M, Lu D, Bertina RM, Long GL, Mann KG. Biochemical prototype for familial thrombosis. A study combining a functional protein C mutation and factor V Leiden. Arterioscl Thromb Vasc Biol 1995; 15: 2181-7.
11. 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: 64-7.
12. Sinclair G, Low S, Poon M-C. A heminested allele-specific whole blood PCR assay for the detection of factor V Leiden mutation associated with activated protein C resistance. Thromb Haemost 1997; 77: 1154-5.
13. Lakich D, Kazazian HH, Antonarakis SE, Gitschier J. Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A. Nature Genet 1993; 5: 236-41.
14. Antonarakis SE, Rossiter JP, Young M, Horst J, de Moerloose P, Sommer SS, Ketterling RP, Kazazian HH, Negrier C, Vinciguerra C, et al. Factor VIII gene inversions in severe hemophilia A: results of an international consortium study. Blood 1995; 86: 2206-12.
15. Poon MC, Low S, Sinclair GD. Factor VIII gene rearrangement analysis and carrier determination in hemophilia A. J Lab Clin Med 1995; 125: 402-6.
16. Windsor S, Taylor SAM, Lillicrap D. Direct detection of the common inversion mutation in the genetic diagnosis of severe hemophilia A. Blood 1994; 84: 2202-5.
17. LEIDEN. Blood 1997; 90: 3067-72.
18. Nichols WC, Amano K, Cacheris PM, Figuerido MS, Michaelides K, Schwaab R, Hoyer L, Kaufman RJ, Ginsberg D. Moderation of hemophilia A phenotype by the factor V R506Q mutation. Blood 1996; 88: 1183-7.
19. Lindvist PG, Svensson PJ, Dahlbäck B, Maršál K. Factor V Q506 mutation (activated protein C resistance) associated with reduced intrapartum blood loss - a possible evolutionary selection mechanism. Thromb Haemost 1998; 79: 69-73.
20. Arruda VR, Annichino-Bizzachi JM, Antunes SV, Costa FF. Association of severe hemophilia A and factor V Leiden: report of three cases. Haemophilia 1996; 2: 51-3.
21. Chan J, Weinman AF, Thompson AR. Factor V Arg/Gln 506 has no dominant influence on the severity of hemophilia when inherited concurrently (abstract). Thromb Haemost 1995; 73 (suppl 1): 1793a.
22. Arbini AA, Mannucci PM, Bauer KA. Low prevalence of the factor V Leiden mutation among "severe" hemophiliacs with a "milder" bleeding diathesis. Thromb Haemost 1995; 75: 1255-8.
23. Oldenburg J, Schröder J, Schmitt C, Brackmann HH, Schwaab R. Small deletion/insertion mutations within poly-A runs of the factor VIII gene mitigate the severe hemophilia phenotype. Thromb Haemost 1998; 79: 452-3.
24. Pettersson H, Gilbert M. Musculoskeletal and other haemorrhagic complications. In: Diagnostic Imaging in Hemophilia. Berlin: Springer-Verlag 1985: 55-60.