What is hemophilia?
Disorder of clotting factor VIII (A) or IX (B).
Symptoms
Prolonged bleeding, joint bleeding and easy bruising.
Genetic causes
Mutations in F8 or F9.
Inheritance pattern
X-linked recessive.
Important genes
F8, F9.
Who should be tested?
Affected men and possible female carriers in the family.
Recommended tests
F8/F9 mutation analysis and intron 22 inversion when relevant.
Counseling
Carrier determination and prenatal options.