Factor X Roma: a congenital factor X variant defective at different degrees in the intrinsic and the extrinsic activation. 1988

V De Stefano, and G Leone, and R Ferrelli, and H J Hassan, and G Macioce, and B Bizzi
Istituto di Semeiotica Medica, Università Cattolica S. Cuore, Roma, Italy.

A factor X molecular variant was identified in a 13-year-old girl affected by a bleeding tendency. Factor X antigen levels and activation by Russel's viper venom (tested both by clotting and amidolytic assays) were normal. Factor X crossed immunoelectrophoresis was found to be identical to that of the control plasma. Factor X functional activity was low (3% of the normal) if tested by PTT-derived assays, whereas it was found at intermediate levels (about 30-50% of the normal) if measured by prothrombin time-derived assays. The defect in the extrinsic activation was more clearly disclosed using as activating agent thromboplastin from ox brain. The factor X of the patient was completely adsorbed by aluminum hydroxide. The parents of the propositus (first degree cousins) showed factor X functional levels compatible with a condition of heterozygosity for the abnormality. This factor X molecular variant appears different from the other ones so far described and was named 'Factor X Roma'.

UI MeSH Term Description Entries
D007020 Hypoprothrombinemias Absence or reduced levels of PROTHROMBIN in the blood. Factor II Deficiency,Prothrombin Deficiency,Deficiency, Factor II,Hypoprothrombinemia,Deficiencies, Factor II,Deficiencies, Prothrombin,Deficiency, Prothrombin,Factor II Deficiencies,Prothrombin Deficiencies
D005170 Factor X Storage-stable glycoprotein blood coagulation factor that can be activated to factor Xa by both the intrinsic and extrinsic pathways. A deficiency of factor X, sometimes called Stuart-Prower factor deficiency, may lead to a systemic coagulation disorder. Autoprothrombin III,Coagulation Factor X,Stuart Factor,Stuart-Prower Factor,Blood Coagulation Factor X,Factor 10,Factor Ten,Stuart Prower Factor,Factor X, Coagulation
D005171 Factor X Deficiency Blood coagulation disorder usually inherited as an autosomal recessive trait, though it can be acquired. It is characterized by defective activity in both the intrinsic and extrinsic pathways, impaired thromboplastin time, and impaired prothrombin consumption. Deficiency, Factor 10,Deficiency, Factor Ten,Deficiency, Factor X,Deficiency, Stuart-Prower,Deficiency, Stuart-Prower Factor,Factor 10 Deficiency,Factor Ten Deficiency,Stuart-Prower Deficiency,Stuart-Prower Factor Deficiency,Deficiencies, Factor 10,Deficiencies, Factor Ten,Deficiencies, Factor X,Deficiency, Stuart Prower,Deficiency, Stuart Prower Factor,Factor 10 Deficiencies,Factor Ten Deficiencies,Factor X Deficiencies,Stuart Prower Deficiency,Stuart Prower Factor Deficiency,Ten Deficiencies, Factor
D005260 Female Females
D006474 Hemorrhagic Disorders Spontaneous or near spontaneous bleeding caused by a defect in clotting mechanisms (BLOOD COAGULATION DISORDERS) or another abnormality causing a structural flaw in the blood vessels (HEMOSTATIC DISORDERS). Hemorrhagic Diathesis,Diatheses, Hemorrhagic,Diathesis, Hemorrhagic,Disorder, Hemorrhagic,Disorders, Hemorrhagic,Hemorrhagic Diatheses,Hemorrhagic Disorder
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000293 Adolescent A person 13 to 18 years of age. Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths
D000941 Antigens Substances that are recognized by the immune system and induce an immune reaction. Antigen

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