Analysis of the F5gene by PCR amplification and sequencing of the coding region and splice junctions is the gold standard approach.
Heritable factor V deficiency is an autosomal recessive rare bleeding disorder, caused by defects in the F5 gene. Clinical presentation can be severe or even life threatening. It often manifests from birth, with bleeding from the umbilical stalk. The majortiy of patients with factor V deficiency will have mucosal bleeding, and most females will also have menorrhagia. Some patients, with a null mutation and a FVLeiden polymorphism on the expressed allele may present with elevated thrombotic risk.
Synonyms or keywords:
Factor V deficiency