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Measurement of Factor V Activity in Human Plasma Using a Microplate Coagulation Assay
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Published on: September 9, 2012

Inherited thrombotic tendency in a pedigree with antithrombin La Rochelle (N405K) and factor V Leiden

P J Hayden1, M O'Brien, B Collins

  • 1Department of Haematology, St Vincent's University Hospital, Dublin, Ireland. haydenpj@indigo.ie

Clinical and Laboratory Haematology
|May 21, 2003
PubMed

An Irish pedigree with a strong thrombotic tendency, due to the novel association of antithrombin La Rochelle (N405K) and factor V Leiden is described. Thromboses occurred at a median age of 16 years in four family members, carrying both mutant alleles. Molecular diagnosis was facilitated by the creation of an additional restriction enzyme site (Mnl1) in exon 6 of the antithrombin gene. Both the genes for antithrombin and factor V are located at chromosome 1q23. The molecular data and phenotypic behaviour in this family are strongly suggestive of allelic co-segregation of the mutant alleles.

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