Analysis of the F10gene by PCR amplification and sequencing of the coding region and splice junctions is the gold standard approach.
Heritable factor X deficiency is a rare autosomal recessive bleeding disorder, caused by defects in the F10 gene, with a prevalence of 1 in 0.5-1 million. Heterozygotes are generally asymptomatic but may exibit a mild bleeding phenotype and can be at greater risk of bleeding following surgery or trauma. Homozygotes may suffer hematuria, soft-tissue bleeds, hemarthroses, recurrent existaxis and menhorrhagia.
Synonyms or keywords:
Factor X deficiency