Hemophilia is an X-linked congenital bleeding disorder caused by a deficiency of coagulation factor VIII (hemophilia A) or factor IX (hemophilia B). Hemophilia A is more common (85% of the total) than hemophilia B.
When To Suspect Hemophilia?
- Easy bruising in early childhood
- Spontaneous bleeding particularly into the joints and soft tissue
- Excessive bleeding following trauma or surgery.
Diagnosis
- If there are symptoms suggestive of hemophila, a family history of bleeding is obtained but as many as 1/3 of all patients may not have a family history.
- A prolonged activated partial thromboplastin time (aPTT)
- Deficiency of factor VIII or factor IX.
Severity of manifestation is related to level of clotting factors
Severe (<.01 IU/ml Factor Level)
Spontaneous bleeding, predominantly in joints and muscles
Moderate (IU/ml Factor Level)
Occasional spontaneous bleeding. Severe bleeding with trauma, surgery
Mild (0.05-0.40IU/ml Factor Level)
Severe bleeding with major trauma or surgery
