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  • Factor V Leiden
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  • Hyperhomocysteinemia
  • Diseases from abnormal clotting
  • Antithrombin III deficiency
  • References
  • Protein C deficiency
  • Protein S deficiency

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    Below are selected references from those reviewed to prepare the information on these web pages. These references were chosen to help patients, their families and health care workers learn more about the thrombophilic conditions.

    General References:
    1. Bertina, R.M., Molecular risk factors for thrombosis. Thromb Haemost, 1999. 82(2): p. 601-9.
    2. Beutler, E. and W.J. Williams, Williams hematology. 6th ed. 2001, New York: McGraw-Hill Health Professions Division. xxvii, 1941, 106.
    3. Brenner, B., et al., Gestational outcome in thrombophilic women with recurrent pregnancy loss treated by enoxaparin. Thromb Haemost, 2000. 83(5): p. 693-7.
    4. Colman, R.W., Hemostasis and thrombosis : basic principles and clinical practice. 4th ed. 2001, Philadelphia: Lippincott Williams & Wilkins. xix, 1578 , <32> of plates.
    5. Federman, D.G. and R.S. Kirsner, An update on hypercoagulable disorders. Arch Intern Med, 2001. 161(8): p. 1051-6.
    6. Hansson, P.O., J. Sorbo, and H. Eriksson, Recurrent venous thromboembolism after deep vein thrombosis: incidence and risk factors. Arch Intern Med, 2000. 160(6): p. 769-74.
    7. Hyers, T.M., et al., Antithrombotic therapy for venous thromboembolic disease. Chest, 2001. 119(1 Suppl): p. 176S-193S.
    8. Kearon, C. and J. Hirsh, Management of anticoagulation before and after elective surgery. N Engl J Med, 1997. 336(21): p. 1506-11.
    9. Kearon, C., et al., A comparison of three months of anticoagulation with extended anticoagulation for a first episode of idiopathic venous thromboembolism. N Engl J Med, 1999. 340(12): p. 901-7.
    10. Kearon, C., M. Crowther, and J. Hirsh, Management of patients with hereditary hypercoagulable disorders. Annu Rev Med, 2000. 51: p. 169-85.
    11. Kupferminc, M.J., et al., Increased frequency of genetic thrombophilia in women with complications of pregnancy. N Engl J Med, 1999. 340(1): p. 9-13.
    12. Lensing, A.W., et al., Deep-vein thrombosis. Lancet, 1999. 353(9151): p. 479-85.
    13. Rosenberg, R.D. and W.C. Aird, Vascular-bed--specific hemostasis and hypercoagulable states. N Engl J Med, 1999. 340(20): p. 1555-64.
    14. Rosendaal, F.R., Venous thrombosis: a multicausal disease. Lancet, 1999. 353(9159): p. 1167-73.
    15. Seligsohn, U. and A. Lubetsky, Genetic susceptibility to venous thrombosis. N Engl J Med, 2001. 344(16): p. 1222-31.

    Factor V Leiden:
    1. Dahlback, B., M. Carlsson, and P.J. Svensson, Familial thrombophilia due to a previously unrecognized mechanism characterized by poor anticoagulant response to activated protein C: prediction of a cofactor to activated protein C. Proc Natl Acad Sci U S A, 1993. 90(3): p. 1004-8.
    2. Gerhardt, A., et al., Prothrombin and factor V mutations in women with a history of thrombosis during pregnancy and the puerperium. N Engl J Med, 2000. 342(6): p. 374-80.
    3. Martinelli, I., et al., The risk of venous thromboembolism in family members with mutations in the genes of factor V or prothrombin or both. Br J Haematol, 2000. 111(4): p. 1223-9.
    4. Price, D.T. and P.M. Ridker, Factor V Leiden mutation and the risks for thromboembolic disease: a clinical perspective. Ann Intern Med, 1997. 127(10): p. 895-903.
    5. Rees, D.C., M. Cox, and J.B. Clegg, World distribution of factor V Leiden. Lancet, 1995. 346(8983): p. 1133-4.
    6. Ridker, P.M., et al., Age-specific incidence rates of venous thromboembolism among heterozygous carriers of factor V Leiden mutation. Ann Intern Med, 1997. 126(7): p. 528-31.

    Prothrombin Mutation:
    1. De Stefano, V., et al., The risk of recurrent venous thromboembolism among heterozygous carriers of the G20210A prothrombin gene mutation. Br J Haematol, 2001. 113(3): p. 630-5.
    2. Gerhardt, A., et al., Prothrombin and factor V mutations in women with a history of thrombosis during pregnancy and the puerperium. N Engl J Med, 2000. 342(6): p. 374-80.
    3. Martinelli, I., et al., The risk of venous thromboembolism in family members with mutations in the genes of factor V or prothrombin or both. Br J Haematol, 2000. 111(4): p. 1223-9.

    Antiphospholipid Antibody Syndrome:
    1. Greaves, M., et al., Guidelines on the investigation and management of the antiphospholipid syndrome. Br J Haematol, 2000. 109(4): p. 704-15.
    2. Khamashta, M.A., Hughes syndrome : antiphospholipid syndrome. 2000, London ; New York: Springer. xx, 474.
    3. Rand, J.H., et al., Pregnancy loss in the antiphospholipid-antibody syndrome--a possible thrombogenic mechanism. N Engl J Med, 1997. 337(3): p. 154-60.