LETTER TO THE EDITOR Open Access Three novel F8 mutations in sporadic haemophilia A cases

Hemophilia A (HA) is an X-linked hereditary disorder characterized by bleeding of variable severity through mild, moderate to severe owing to large range of muta-tions in the Factor VIII (F8) gene (Bowen 2002). All kind of F8 mutations, except repeats, have been reported for HA, in total up to 2370 (Human Genome Mutation Database 2005). A preliminary study was conducted in our lab for identification of mutations in F8 gene in Pakistani HA patients. Correlation of F8 mutations with clinical manifestation of HA patients was the main objective of the study. Blood samples were collected from 62 HA patients from all over the Pakistan and clin-ical history of all HA patients was recorded (only patients frequently visiting medical centers for the re-placement of Factor VIII were selected for the study). Genomic DNA was extracted from whole blood by standard organic procedure. Specific primers (Figure 1) were designed using “Primer3