Article
Phenotype and genotype report on homozygous and heterozygous patients with congenital factor X deficiency.
Haematologica - 1 Jun 2008
Karimi Mehran, Menegatti Marzia, Afrasiabi Abdolreza, Sarikhani Sanaz, Peyvandi Flora
Abstract excerpt
Factor X deficiency is a severe rare hemorrhagic condition inherited as an autosomal recessive trait. It is one of the most severe recessive inherited coagulation disorders. We analyzed the clinical manifestations, laboratory phenotype and genotype in 10 patients with severe Factor X deficiency and in their heterozygous relatives. The most frequent bleeding episodes were hematomas (70%) and gum bleeding (60%)....
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