title: A family with factor X deficiency from Argentina: a compound heterozygosis because of the combination of a new mutation (Gln138Arg) with an already known one (Glu350Lys).
abstract: The objective was to investigate a family from Argentina. The proposita was a 51-year-old woman who had a moderate bleeding tendency. Some of her children showed a mild bleeding tendency. Her mother and the husband were asymptomatic. Clotting, immunological and molecular biology techniques were used. Partial thromboplastin, prothrombin, Russell Viper venom-clotting times were moderately prolonged in the proposita, whereas they were slightly prolonged in the children and in her mother. Factor X (FX) activity was about 2-3% of normal in all assay systems. FX antigen was less than 5%. Other clotting factors and platelet were normal. Genetic analysis showed a compound heterozygosis: combination of a 'new' mutation (Gln138Arg) with an already known mutation (Glu350Lys). The children had intermediate FX levels (35-63% of normal) and were carriers of one of the two mutations present in the proposita. This is the first observation of a FX deficiency in Argentina.
authors.affiliation: aUniversity of Padua Medical School, Department of Medicine, Padua, Italy bFacultad de Ciencias Quimicas, Universidad Nacional de Cordoba, Sanatorio Allende, Cordoba cServicio de Hematologia, Hospital Ntra Sra de la Misericordia, Cordoba, Argentina.
authors.forename: Antonio
authors.initials: A
authors.lastname: Girolami
authors.forename: Maria Angelica
authors.initials: MA
authors.lastname: Molina
authors.forename: Maria Laura Lopez
authors.initials: ML
authors.lastname: Galletti
authors.forename: Silvia
authors.initials: S
authors.lastname: Ferrari
authors.forename: Luisa
authors.initials: L
authors.lastname: Sambado
authors.forename: Hugo
authors.initials: H
authors.lastname: Guglielmone
mesh_terms: D000293:Adolescent; D000328:Adult; D000941:Antigens / Q000097:blood / Q000235:genetics*; D001118:Argentina; D001483:Base Sequence; D001780:Blood Coagulation Tests; D004252:DNA Mutational Analysis; D005170:Factor X / Q000235:genetics*; D005171:Factor X Deficiency / Q000097:blood / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D015870:Gene Expression; D006470:Hemorrhage / Q000097:blood / Q000175:diagnosis / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree
chemical_list: D000941:Antigens; C010515:factor X antigen; D005170:Factor X