Article
Genetic testing in bleeding disorders.
Haemophilia : the official journal of the World Federation of Hemophilia - 1 May 2014
de Brasi C, El-Maarri O, Perry D J, Oldenburg J, Pezeshkpoor B, Goodeve A
Abstract excerpt
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...
Topics
- Blood Coagulation Disorders
- Factor IX
- Factor VIII
- Genetic Testing
- Hemophilia A
- Hemophilia B
- Humans
- Mutation