Hemophilia A (Factor VIII) Inversions
What is Hemophilia A (Factor VIII) Inversions?
The deficiency of clotting factor VIII is the main cause of the condition Hemophilia A. It is a rare condition that affects only about 0.02% of males. The major symptom in males is excessive bleeding. Females do not experience bleeding but are at a risk of delivering affected offspring. The test detects intron 22 inversion with F8 gene.
Why is Hemophilia A (Factor VIII) Inversions done?
This test is ideal for males affected with severe hemophIlia, who have been previously identified with a familial intron 22 inversion. The test is useful for first tier molecular testing. Women with a family history of severe haemophilia A must also get tested.