title: Neonatal onset of congenital factor X deficiency: a description of two novel mutations with 6-year follow-up.
abstract: Factor X congenital deficiency is a rare coagulation disorder involving autosomal recessive transmission. The clinical situation depends on the extent of the defect and may appear at any age. We report a case of a term newborn who developed a life-threatening bleeding event on the first day of life because of a Factor X (FX) deficiency. Fresh frozen plasma and FX intravenous replacement therapy were administered with normalization of the coagulation test. Genetic analysis identified two novel mutations (c.517G>T; c.139delG) in heterozygous state in the proband that were confirmed in the parents. We also describe a 6-year follow-up during which the patient has been administered prophylactic replacement therapy. The description of these two novel mutations and the long clinical follow-up help to increase our knowledge of the genotype-phenotype correlation of congenital FX deficiency, and provide information on better ways of managing the replacement therapy in patients with similar mutations.
authors.affiliation: aDepartment of Neuroscience, Psychology, Drug Research and Child Health, Careggi University Hospital of Florence, Florence, Italy bDepartment of Pathophysiology and Transplantation, University of Milan and Luigi Villa Foundation cAngelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.
authors.forename: Iuri
authors.initials: I
authors.lastname: Corsini
authors.forename: Marzia
authors.initials: M
authors.lastname: Menegatti
authors.forename: Andrea
authors.initials: A
authors.lastname: Cairo
authors.forename: Carlo
authors.initials: C
authors.lastname: Dani
mesh_terms: D000328:Adult; D005171:Factor X Deficiency / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation