New Strategies in Diagnosis of Haemophilia A

Haemophilia A is an X-linked recessive genetic disorder with an incidence of 1/5,000-10,000 male births in which males are affected and females are typically asymptomatic carriers. It is caused by deficiency of factor VIII (FVIII), a cofactor in the activation of factor X at the middle stages of the coagulation cascade. Deficiency of FVIII is caused by mutations in FVIII gene including point mutations (most common), deletions, insertions, and rearrangements /inversions. The aim of the study is to construct effective diagnostic strategy for carrier determination and prenatal diagnosis of haemophilia A to prevent recurrent disease in families already affected .