Hemophilia is a blood clotting disorder that arises with a mutation or deletion of the gene that controls blood clotting. It is the most common congenital blood clotting disorder. There are two common types of hemophilia – A and B. Hemophilia A is the more common type and is due to a deficiency of Factor VIII while hemophilia is due to a deficiency of Factor IX. A rare type of hemophilia involves Factor XI and is known as hemophilia C. These clotting factors are necessary in the series of steps, known as the coagulation cascade, that eventually leads to the formation of a blood clot. When this process is disrupted the body cannot adequately prevent blood loss.
Classification of Hemophilia
Hemophilia may be classified as severe, moderate or mild. This is based on the levels of Factor VIII or Factor IX depending on the type of hemophilia. The clinical presentation is also an indication of the severity of hemophilia.
- Clotting factor levels less than 1% (< 0.01 IU/ml)
- Spontaneous bleeding – hemarthroses (joint bleeding) and muscle hematomas
- Clotting factor levels between 1% and 5% (0.01 IU/ml to 0.05 IU/ml)
- Bleeding with mild trauma or minor surgery.
- Clotting factor levels between 5% and 40% (0.05 IU/ml to 0.4 IU/ml)
- Excessive bleeding with severe trauma or major surgery.
Signs and Symptoms of Hemophilia
In hemophilia, efficient blood clotting is compromised and even pressure or blunt force injury results in bruising. The pressure areas of the body are more often afflicted and bruising arises without any break in the skin. The blood vessels are constantly injured throughout the day even without any trauma and this leads to unexplained bruising. Even small breaks in the skin that may normally go by unnoticed leads to bleeding that can be alarming. This is often reported as unexplained bleeding. Bleeding may be profuse and prolonged with injuries, cuts and even surgical procedures including common procedures like a tooth extraction.
Joint pain and swelling may arise with bruising or bleeding into the joint space (hemarthroses). This can affect several joints simultaneously. It also leads to tightness of the joint. The more commonly affected joints are the elbows, hips, knees and ankles. Muscle hematomas are more frequently seen with severe hemophilia and more commonly seen in the calf muscles and psoas muscles.
Nosebleeds may arise spontaneously or even a minor injury to the nose or nasal cavity can lead to profuse bleeding. Blood in the urine (hematuria) or stool (hematochezia) may also be reported. Although women are rarely affected with hemophilia, in hemophilia C which can affect both sexes, there may be profuse and prolonged menses in females.
Sometimes the bleeding is not obvious. Even mild trauma can leading to bleeding in the brain or cranium (intracranial hemorrhage) or within the abdominal cavity (intra-abdominal bleeding). Hemophilics therefore need to be additionally cautious after trauma even if there is no clear indication of bleeding.
Babies born with severe hemophilia may develop cephalohematoma (bleeding under the scalp). Hemophilia may only be discovered when a male child is circumcised and there is uncontrollable bleeding.
Complications of Hemophilia
Complications are more likely to arise with severe hemophilia.
- Recurrent hemathroses (bleeding in the joint) leads to joint destruction as the joint lining thickens, the cartilage is destroyed and the bone degenerates (osteoarthrosis).
- Muscle hematomas may compress nerves as is seen with the femoral nerve due to a psoas muscle hematoma.
- Internal bleeding (hemorrhage). When there is bleeding within an compartmentalized area, it may lead to a swelling of the region with compression and destruction of the tissue. This gradually occurs without any initial signs of bruising evident on the skin surface.
- Blood-borne infections are more likely to arise in hemophiliacs receiving blood transfusions. Viral hepatitis (HBV and HCV) and HIV infection were often seen prior to stringent blood screening procedures.
- Adverse reactions to blood transfusions are more commonly seen in severe hemophiliacs with hemophilia A. Anti-Factor VIII antibodies neutralize the clotting factor and therefore activated Factor VIII (VIIIa) needs to be infused during episodes of severe bleeding.
Treatment of Hemophilia
- Desmopressin (injection or nasal spray). DDVAP is a vasopression receptor agonist that raises von Willebrand factor and this increases Factor VIII levels. This may be administered in mild to moderate hemophilia A.
- Infusions with clotting factors may be administered during episodes of bleeding in moderate to severe hemophilia A and B. Prophylactic infusions may be considered in severe hemophilia. In hemophilia C, a plasma infusion may be necessary during bleeding episodes.