Haemophilia A
Haemophilia A is due to a deficiency of Factor VIII. This is one of the most common of the clotting factor deficiencies. The genetic defect is sex-linked and approximately 1 in 10,000 are affected. Depending on the concentration of Factor VIII in the blood, haemophiliacs are classified as having either severe, moderate or mild bleeding problems. (See table below).
Correlation of Coagulation Factor activity
and disease severity
in Haemophilia A and B
| Coagulation Factor Activity (% normal*) | Clinical Manifestation |
|---|---|
| <2** | Severe – frequent spontaneous bleeds from early life, joint deformity and crippling if not adequately treated |
| 2-10 | Moderate – post-traumatic bleeding, occasional spontaneous bleeds |
| >10 | Mild – post-traumatic bleeding |
| * Normal is 100% and is defined as 100 international units (iu) of the factor per dl of blood. 'Normal' coagulation factor activity can range from 50 - 200%. About one-third of carriers have low or subnormal activity. In pregnancy, activity levels may exceed 200%. ** Severe disease is sometimes defined as <1% normal coagulation factor activity. |
|
If untreated, patients with severe deficiencies may have frequent spontaneous bleeding into joints and muscles; they bleed excessively during minor surgery (e.g. tooth extraction) and may suffer life-threatening bleeding from trauma or even relatively mild injury. Replacement of the missing Factor VIII corrects the bleeding problem. Most severe haemophiliacs in the UK are treated at home injecting themselves either prophylactically or when they experience a bleed - known as 'on demand' treatment. By doing this they can avoid the pain and subsequent crippling effects of major bleeding episodes and enjoy a near normal lifestyle.
Factor VIII/vWF Concentrate - Patient Information Leaflet (PIL)
