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- Stacy C League
- W Craig Hooper, PhD⇑
- Address for correspondence: W Craig Hooper PhD, Centers for Disease Control and Prevention, MS D02, 1600 Clifton Rd, Atlanta GA 30333. (404) 639-3750, (404) 639-1638 (fax). chooper{at}cdc.gov
Define thrombophilia and explain the difference between acquired and inherited forms.
Define the terms multigenic and multifactorial.
Identify the three most common inherited protein deficiencies associated with venous thrombosis.
List three common genetic single nucleotide polymorphisms (SNPs) tested in the diagnosis of inherited thrombosis.
Describe the mechanism by which the Factor V Leiden mutation affects hemostasis.
Describe the effect of the MTHFR C677T mutation on homocysteine metabolism.
Explain the purpose of polymerase chain reaction (PCR).
Compare and contrast laboratory methods used to identify single nucleotide polymorphisms.
Extract
Thrombophilia can best be defined as a disorder of coagulation that contributes to a predisposition towards thrombosis. Although the term thrombophilia has been used to describe arterial thrombosis, its most common usage has been in reference to venous thromboembolism (VTE). Thrombophilia can be a consequence of both acquired and inherited or genetic causes. Acquired causes include conditions such as surgery, cancer, and prolonged immobilization, while genetic causes have been linked to the inherited deficiencies of antithrombin, protein C, and protein S. The identification of the genetic basis of these inherited causes of thrombophilia ushered in a new way of thinking about thrombosis and the importance of its genetic component. Interest in the genetic basis of VTE was accelerated with the subsequent discovery of factor V Leiden, prothrombin G20210A, and MTHFR C677T. These single nucleotide polymorphisms (SNPs) and other genetic variants associated with VTE have become fixtures in the molecular diagnosis of inherited thrombophilia. Because of the large volume of current and anticipated future genetic testing, there has been a push to develop many different genotyping methods which are now used in both clinical and research settings. The identification of new genetic variants that may either directly or indirectly affect coagulation or the anticoagulant pathway, may greatly advance the understanding and clinical management of thrombophilia.
Hemostasis is a complex balance of procoagulant and anticoagulant forces that act in concert to physiologically control bleeding and clotting. The term thrombophilia refers to a disorder in coagulation that shifts hemostasis towards an increased predisposition…
ABBREVIATIONS: APCR = activated protein C resistance; CBS = cystathionine β-synthase; FVL = factor V Leiden; LDL = low density lipoprotein; MTHFR = methylenetetrahydrofolate reductase; MTR = methionine synthase; MTRR = methionine synthase reductase; PCR = polymerase chain reaction; PE = pulmonary embolism; PT = prothrombin; SNP = single nucleotide polymorphism; VTE = venous thromboembolism.
Define thrombophilia and explain the difference between acquired and inherited forms.
Define the terms multigenic and multifactorial.
Identify the three most common inherited protein deficiencies associated with venous thrombosis.
List three common genetic single nucleotide polymorphisms (SNPs) tested in the diagnosis of inherited thrombosis.
Describe the mechanism by which the Factor V Leiden mutation affects hemostasis.
Describe the effect of the MTHFR C677T mutation on homocysteine metabolism.
Explain the purpose of polymerase chain reaction (PCR).
Compare and contrast laboratory methods used to identify single nucleotide polymorphisms.
- © Copyright 2005 American Society for Clinical Laboratory Science Inc. All rights reserved.
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