title: Severe factor X deficiency due to a homozygous mutation (Cys364Arg) that disrupts a disulphide bond in the catalytic domain.
abstract: Severe factor X deficiency (<0.01 IU mL(-1)) is a rare disorder producing a major bleeding tendency including umbilical cord, joint and intracranial haemorrhage. We present the first case of a child homozygous for a g.1177T > C missense alteration, predicted to disrupt the catalytic domain, and resulting in severe FX deficiency. The child suffered intracranial haemorrhage and now receives regular prophylaxis with a prothrombin complex concentrate. Our experience and a review of the literature suggest that optimal frequency of dosing is likely to be two or three times weekly and that the risk of thrombosis is very small.
authors.affiliation: Department of Haematology, Addenbrooke's Hospital, Hills Road, Cambridge, UK. tony.todd@addenbrookes.nhs.uk
authors.forename: T
authors.initials: T
authors.lastname: Todd
authors.forename: D J
authors.initials: DJ
authors.lastname: Perry
authors.forename: E
authors.initials: E
authors.lastname: Hayman
authors.forename: K
authors.initials: K
authors.lastname: Lawrence
authors.forename: M
authors.initials: M
authors.lastname: Gattens
authors.forename: T
authors.initials: T
authors.lastname: Baglin
mesh_terms: D000293:Adolescent; D000328:Adult; D001779:Blood Coagulation Factors / Q000627:therapeutic use*; D020134:Catalytic Domain / Q000235:genetics; D002675:Child, Preschool; D005171:Factor X Deficiency / Q000150:complications / Q000188:drug therapy / Q000517:prevention & control*; D006470:Hemorrhage / Q000188:drug therapy / Q000209:etiology / Q000517:prevention & control*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D009154:Mutation / Q000235:genetics*
chemical_list: D001779:Blood Coagulation Factors; C025667:prothrombin complex concentrates