Factor X Padua: a 'new' congenital factor X abnormality with a defect only in the extrinsic system. 1985

A Girolami, and M Vicarioto, and G Ruzza, and G Cappellato, and A Vergolani

A family with a new factor X defect is reported. The proposita is a 56-year-old female. She is asymptomatic and no consanguinity is present between the parents. The main features of the defect are: prolongation of prothrombin time and derivative tests but normal partial thromboplastin time. Factor X was found to be low (about 25-30% of normal) only if tissue thromboplastins were used in the assay system. Chromogenic substrate S-2222 also yielded decreased factor X levels. However, factor X activity was normal with cephalin and cephalin-RVV mixture. Factor X antigen was normal in three immunological systems (electroimmunoassay, an Elisa method and laser nephelometry). Crossed immunoelectrophoresis and antigen-antibody kinetics recorded in a laser nephelometer failed to show major differences from normal factor X. Both sons of the proposita, the father and other family members showed slightly decreased factor X levels and normal factor X antigen and were considered heterozygous for the abnormality. The toponym factor X Padua is proposed to indicate this peculiar abnormality.

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
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D010314 Partial Thromboplastin Time The time required for the appearance of FIBRIN strands following the mixing of PLASMA with phospholipid platelet substitute (e.g., crude cephalins, soybean phosphatides). It is a test of the intrinsic pathway (factors VIII, IX, XI, and XII) and the common pathway (fibrinogen, prothrombin, factors V and X) of BLOOD COAGULATION. It is used as a screening test and to monitor HEPARIN therapy. Activated Partial Thromboplastin Time,Cephalin-Kaolin Coagulation Time,Kaolin-Cephalin Coagulation Time,Thromboplastin Time, Partial,Coagulation Time, Cephalin-Kaolin,Cephalin Kaolin Coagulation Time,Coagulation Time, Cephalin Kaolin,Coagulation Time, Kaolin-Cephalin,Kaolin Cephalin Coagulation Time
D010375 Pedigree The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition. Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D011517 Prothrombin Time Clotting time of PLASMA recalcified in the presence of excess TISSUE THROMBOPLASTIN. Factors measured are FIBRINOGEN; PROTHROMBIN; FACTOR V; FACTOR VII; and FACTOR X. It is used for monitoring anticoagulant therapy with COUMARINS. Quick Test,Russell's Viper Venom Time,Thrombotest,Russell Viper Venom Time,Russells Viper Venom Time,Prothrombin Times,Test, Quick,Time, Prothrombin,Times, Prothrombin
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
D006579 Heterozygote An individual having different alleles at one or more loci regarding a specific character. Carriers, Genetic,Genetic Carriers,Carrier, Genetic,Genetic Carrier,Heterozygotes
D006720 Homozygote An individual in which both alleles at a given locus are identical. Homozygotes
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

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