Frequency of the p.Thr241Asn mutation in Chinese patients with congenital factor VII deficiency

Congenital factor VII deficiency is the commonest of the rare bleeding disorder inherited as an autosomal recessive trait. Phenotypical heterogeneity is a characterization of this haemorrhagic disorder, which manifests with bleeding symptoms of different severity, or even asyptomatic forms. We addressed the clinical pictures, laboratory phenotype and genotype in 18 unrelated patients of China (17 from Jiangxi province) affected with FVII deficiency.