info:eu-repo/semantics/article
Genetic testing in bleeding disorders
Fecha
2014-05Registro en:
de Brasi, Carlos Daniel; El Maarri, O.; Perry, D. J.; Oldenburg, J.; Pezeshkpoor, B.; et al.; Genetic testing in bleeding disorders; Wiley Blackwell Publishing, Inc; Haemophilia The Official Journal Of The World Federation Of Hemophilia; 20; S4; 5-2014; 54-58
1351-8216
CONICET Digital
CONICET
Autor
de Brasi, Carlos Daniel
El Maarri, O.
Perry, D. J.
Oldenburg, J.
Pezeshkpoor, B.
Goodeve, A.
Resumen
The aim of molecular genetic analysis in families with haemophilia is to identify the causative mutation in an affected male as this provides valuable information for the patient and his relatives. For the patient, mutation identification may highlight inhibitor development risk or discrepancy between different factor VIII assays. For female relatives, knowledge of the familial mutation can facilitate carrier status determination and prenatal diagnosis. Recent advances in understanding mutations responsible for haemophilia and methods for their detection are presented. For reporting of such mutations, participation in external quality assessment ensures that essential patient and mutation details are routinely included and that pertinent information is incorporated in the interpretation.