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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)
- Source :
- Blood Coagulation and Fibrinolysis; September 2016, Vol. 27 Issue: 6 p732-736, 5p
- Publication Year :
- 2016
-
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 2β3% of normal in all assay systems. FX antigen was less than 5%. Other clotting factors and plateletwere normal. Genetic analysis showed a compound heterozygosis: combination of a βnewβ mutation (Gln138Arg) with an already known mutation (Glu350Lys). The children had intermediate FX levels (35β63% 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.
Details
- Language :
- English
- ISSN :
- 09575235 and 14735733
- Volume :
- 27
- Issue :
- 6
- Database :
- Supplemental Index
- Journal :
- Blood Coagulation and Fibrinolysis
- Publication Type :
- Periodical
- Accession number :
- ejs48599249
- Full Text :
- https://doi.org/10.1097/MBC.0000000000000563