title: The role of primary prophylactic factor replacement therapy in children with severe factor X deficiency.
abstract: Severe factor X (FX) deficiency is one of the severest inherited coagulation disorders. Clinical manifestations include umbilical cord, mucosal, joint and central nervous system bleeding. Four Irish children with severe FX deficiency presented with umbilical cord bleeding. One developed an intraperitoneal haemorrhage and another an intracranial bleed. Prophylaxis, using intermediate purity Factor IX concentrate, was commenced within the first month of life, necessitating the insertion of central venous access devices in two of the children. All children have normal joint function, suggesting that prophylaxis commenced early in life reduces the incidence of arthropathy and improves quality of life.
authors.affiliation: National Centre for Hereditary Coagulation Disorders, AMNCH, and St James' Hospital Dublin, Ireland.
authors.forename: Corrina
authors.initials: C
authors.lastname: McMahon
authors.forename: Judith
authors.initials: J
authors.lastname: Smith
authors.forename: Collette
authors.initials: C
authors.lastname: Goonan
authors.forename: Mary
authors.initials: M
authors.lastname: Byrne
authors.forename: Owen P
authors.initials: OP
authors.lastname: Smith
mesh_terms: D000293:Adolescent; D001779:Blood Coagulation Factors / Q000627:therapeutic use*; D002408:Catheters, Indwelling; D002648:Child; D005171:Factor X Deficiency / Q000235:genetics / Q000517:prevention & control*; D005260:Female; D006474:Hemorrhagic Disorders / Q000209:etiology / Q000517:prevention & control*; D006801:Humans; D008297:Male; D010375:Pedigree
chemical_list: D001779:Blood Coagulation Factors; C025667:prothrombin complex concentrates