Article
Application of a molecular diagnostic algorithm for haemophilia A and B using next-generation sequencing of entire F8, F9 and VWF genes.
Thrombosis and haemostasis - 5 Jan 2017
Bastida Jose Maria, González-Porras Jose Ramon, Jiménez Cristina, Benito Rocio, Ordoñez Gonzalo R, Álvarez-Román Maria Teresa, Fontecha M Elena, Janusz Kamila, Castillo David, Fisac Rosa María, García-Frade Luis Javier, Aguilar Carlos, Martínez María Paz, Bermejo Nuria, Herrero Sonia, Balanzategui Ana, Martin-Antorán Jose Manuel, Ramos Rafael, Cebeiro Maria Jose, Pardal Emilia, Aguilera Carmen, Pérez-Gutierrez Belen, Prieto Manuel, Riesco Susana, Mendoza Maria Carmen, Benito Ana, Hortal Benito-Sendin Ana, Jiménez-Yuste Víctor, Hernández-Rivas Jesus Maria, García-Sanz Ramon, González-Díaz Marcos, Sarasquete Maria Eugenia
Abstract excerpt
Currently, molecular diagnosis of haemophilia A and B (HA and HB) highlights the excess risk-inhibitor development associated with specific mutations, and enables carrier testing of female relatives and prenatal or preimplantation genetic diagnosis. Molecular testing for HA also helps distinguish it from von Willebrand disease (VWD). Next-generation sequencing (NGS) allows simultaneous investigation of several...
Topics
- Algorithms
- DNA Mutational Analysis
- Diagnosis, Differential
- Factor IX
- Factor VIII
- Female