Molecular pathology of haemophilia A in Indian patients: identification of 11 novel mutations.

Background: The identification of pathogenic mutations in haemophilia A (HA) patients is important as a basis for genetic diagnosis and also for the assessment of clinical manifestations.

Method: We analyzed 36 inversion negative congenital HA cases (28 unrelated and 8 familial) by multiplex PCR and the conformation sensitive gel electrophoresis (CSGE) technique, followed by DNA sequencing. The pathogenicity of each of these mutations was assessed using various prediction software.