Molecular Diagnosis of Hereditary Thrombotic Disorders

  • James G. Donnelly
Part of the Methods in Molecular Medicine™ book series (MIMM, volume 49)


Deep vein thrombosis (DVT) can be the result of coagulation pathway defects at the molecular level or damage to the vascular endothelium. Some of the acquired causes of DVT include malignancy, trauma, prolonged immobilization, and pregnancy (1). Thrombophilia can be owing in part to both acquired and inherited defects. The relative risk for thrombosis is increased by estrogen replacement therapy (2) and homocysteinemia (3). Homocysteine metabolism is influenced by the use of alcohol, anticonvulsant drugs, cyclosporine, methotrexate, inadequate dietary vitamin B12, folate and pyridoxine intake, organ transplantation, and reduced creatinine clearance (4, 5, 6, 7, 8). Similar to venous thrombosis, homocysteinemia has genetic factors that influence susceptibility (9, 10, 11).


Deep Vein Thrombosis Polymerase Chain Reaction Assay Factor Versus MTHFR C677T Prothrombin G20210A 
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Copyright information

© Humana Press Inc. 2001

Authors and Affiliations

  • James G. Donnelly
    • 1
  1. 1.Department of Laboratory MedicineOttawa Hospital Civic CampusOttawaCanada

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