Factor V Leiden and other coagulation factor mutations affecting thrombotic risk.

Abstract:

:Five genetic defects have been established as risk factors for venous thrombosis. Three are protein C, protein S, and antithrombin deficiencies, defects in the anticoagulant pathways of blood coagulation. Together they can be found in approximately 15% of families with inherited thrombophilia. Their laboratory diagnosis is hampered by the large genetic heterogeneity of these defects. The other two genetic risk factors, resistance to activated protein C associated with the factor V Leiden mutation and increased prothrombin associated with the prothrombin 20210 A allele, are much more prevalent and together can be found in 63% of the thrombophilia families. Because both defects are caused by a single mutation, DNA analysis is the basis of their laboratory diagnosis.

journal_name

Clin Chem

journal_title

Clinical chemistry

authors

Bertina RM

subject

Has Abstract

pub_date

1997-09-01 00:00:00

pages

1678-83

issue

9

eissn

0009-9147

issn

1530-8561

journal_volume

43

pub_type

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