DEFINITION

• X linked recessive coagulation disorder due to mutations in the gene

encoding factor VIII
• Affects 1 in 5,000 live male births
• 40% of cases occur in families with no prior history of haemophilia
New England Journal of Medicine 344: 1773

The Washington Manual of Medical Therapeutics 34th ed, pp 736-737

PATHOPHYSIOLOGY
• Mutations in the F8 gene (hemophilia A or classic haemophilia) or F9
gene (haemophilia B)
• One of the most common hemophilia A mutations results from an inversion
of the intron 22 sequence, and it is present in 40% of cases of severe
hemophilia A
CLINICAL MANIFESTATIONS
• The disease phenotype correlates with the residual activity of factor
VIII or factor IX aand can be classified as:
• Severe: < 1%
• Moderate: 1-5%
• Mild: 6-30%
• Typically, the global tests of coagulation show only an isolated
prolongation n the aPTT assay.
CLINICAL MANIFESTATIONS