A deficiency of a clotting factor that leads to a bleeding diathesis.
1. Hemophilia A (factor VIII deficiency) (90%)- X-linked inheritance; the most common severe congenital clotting deficiency.
2. Hemophilia B (factor IX deficiency) (9%) – X-linked inheritance
3. Hemophilia C (factor XI deficiency) (< 1%)
- Presents with spontaneous hemorrhage into the tissues and joints that, if left untreated, can lead to arthropathy and joint destruction.
- Spontaneous intracerebral hemorrhages as well as renal, retroperitoneal, and GI bleeding may also be seen.
- Mild cases may have major hemorrhage after surgery or trauma but are otherwise asymptomatic.
PT: Usually normal, but isolated elevations are seen in congenital factor VII deficiency.
aPTT: Prolonged (the more prolonged, the more severe the hemophilia).
Thrombin time, fibrinogen, bleeding time: Usually normal.
Mix the patient’s plasma with normal plasma
If this corrects the aPTT, a factor deficiency is likely.
If the aPTT does not correct, the patient may have a clotting factor inhibitor.
Immediate transfusion of clotting factors (or cryoprecipitate) to at least 40% of normal concentration.
Mild hemophilia may be treated with desmopressin (DDAVP); if so, patients should be fluid restricted to prevent the side effect of hyponatremia.
Q. Do you know How DDAVP works in hemophilia?
A. DDAVP helps the body release extra factor VIII.
I hope you know below facts:
Cryoprecipitate consists mainly of factor VIII and fibrinogen, with smaller concentrations of factor XIII, vWF, and fibronectin.
It is a more concentrated source of factor VIII and fibrinogen than fresh frozen plasma (FFP).
Bleeding disorders which are due to platelet dysfunction usually manifest as petechiae, whereas disorders of coagulation factors cause other symptoms, such as hemarthroses.