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Factor V Leiden: an overview.

Donna M Shaw1

  • 1Department of Medical and Research Technology, University of Maryland School of Medicine, Baltimore, USA. dshaw002@att.net

Clinical Laboratory Science : Journal of the American Society for Medical Technology
|December 22, 2006
PubMed
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Factor V Leiden is an inherited condition causing a higher risk of blood clots (thrombosis) due to a specific gene mutation. Diagnosis involves testing for resistance to activated protein C (APC) and confirming the Factor V Leiden mutation.

Area of Science:

  • Genetics
  • Hematology
  • Molecular Biology

Background:

  • Factor V Leiden is a common inherited thrombophilia.
  • It results from a specific point mutation in the Factor V gene on chromosome 1.
  • This genetic alteration increases the risk of venous thromboembolism.

Purpose of the Study:

  • To provide an updated overview of Factor V Leiden.
  • To discuss its genetic basis and clinical implications.
  • To outline diagnostic approaches for Factor V Leiden.

Main Methods:

  • Review of existing literature on Factor V Leiden.
  • Explanation of the genetic mutation responsible for the condition.
  • Description of diagnostic tests, including APC resistance screening and mutation analysis.

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Main Results:

  • Factor V Leiden is caused by a single nucleotide polymorphism (G1691A) in the F5 gene.
  • This mutation leads to resistance to activated protein C (APC), a key regulator of blood coagulation.
  • Individuals with Factor V Leiden have an elevated risk of developing blood clots.

Conclusions:

  • Factor V Leiden is a significant risk factor for thrombosis.
  • Accurate genetic testing is crucial for diagnosis.
  • Understanding the condition aids in risk assessment and management of thrombotic events.