Factor V, tissue factor pathway inhibitor, and east Texas bleeding disorder

George J. Broze, Thomas J. Girard

Research output: Contribution to journalComment/debate

14 Scopus citations

Abstract

In a report reading like a fascinating detective story, Vincent and colleagues crack the mysterious case of east Texas bleeding disorder. They show that affected individuals have a mutation in exon 13 of the coagulation F5 gene that causes increased expression of an alternatively spliced transcript, which encodes a previously unrecognized factor V (FV) isoform they call FV-short. This FV isoform lacks a large portion of the B domain of FV, which is normally released upon the proteolytic activation of FV by thrombin and binds tightly to the coagulation regulator tissue factor pathway inhibitor-α (TFPIα). This interaction leads to an approximately 10-fold increase in the level of TFPIα circulating in plasma and a resultant anticoagulant effect that produces a hemorrhagic diathesis.

Original languageEnglish
Pages (from-to)3710-3712
Number of pages3
JournalJournal of Clinical Investigation
Volume123
Issue number9
DOIs
StatePublished - Sep 3 2013

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