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Updated: Jun 4, 2026
13:08
Measurement of Factor V Activity in Human Plasma Using a Microplate Coagulation Assay
Published on: September 9, 2012
Screening for the factor v leiden mutation.
1Department of Haematology, Addenbrooke's NHS Trust, Cambridge, UK.
Methods in Molecular Medicine
|February 23, 2011
Summary
Genetic factors contribute to familial thrombosis, a type of venous thromboembolism. However, known genetic defects explain less than 10% of thrombosis cases, indicating other genetic risks exist.
Area of Science:
- Genetics
- Hematology
- Thrombosis Research
Background:
- Familial thrombosis suggests a genetic component in venous thromboembolism (VTE).
- Previously identified genetic defects (antithrombin, protein C, protein S deficiencies) explain <10% of VTE cases.
Purpose of the Study:
- To explore the genetic underpinnings of familial thrombosis.
- To identify novel genetic risk factors for venous thromboembolism beyond established deficiencies.
Main Methods:
- Review of existing literature on genetic thrombophilia.
- Analysis of familial VTE case studies.
- Genetic sequencing and association studies (details not provided in abstract).
Main Results:
- Established genetic defects are insufficient to explain the familial aggregation of thrombosis.
- Suggests the existence of other, yet unidentified, genetic risk factors contributing to VTE.
Conclusions:
- The genetic basis of familial thrombosis is complex and multifactorial.
- Further research is needed to uncover additional genetic determinants of venous thromboembolism.
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