Hemophilia

June 2017


Definition


Hemophilia is a disease that causes abnormalities in blood clotting. Normally, blood will clot after a certain period of time. In the case of hemophilia, this time is prolonged. Hemophilia is a genetic abnormality related to the X chromosome: therefore it affects only men and is transmitted by women. Disorders are related to a lack of clotting factors. There are many symptoms of the disease: Hemophilia A, B or C. The clotting factor that is affected helps differentiate between the different forms of the disease. In the case of the most common type, hemophilia A, it is the factor VIII that is affected, whereas in hemophilia, B or Christmas disease, it is the factor IX.

Symptoms


Coagulation disorders depend on the amount of missing factors. They manifest themselves by:
  • hematoma formation following even a minimal trauma;
  • hemarthrosis, blood in the joints (the knee is commonly affected);
  • "easy" bleeding in case of minimal skin damage.

Symptoms appear very early (often in early childhood).

Diagnosis


The diagnosis is made after a coagulation study that eliminates other bleeding disorders and is comprised of the following tests:
  • prothrombin levels or PT (other clotting factor). Prothrombin is synthesized by the liver and a normal PT level is close to 100%, which is the case in hemophilia;
  • bleeding time or TS, which determines the clotting time of blood. It is measured using two techniques. It varies between 2 and 5 minutes, and is also normal in hemophiliacs;
  • platelet count (normal 150 000-450 000)
  • activated partial thromboplastin time (aPTT). TCA varies from one subject to another and will be longer in hemophiliacs.

The specific levels of these various factors will help to accurately diagnose the type of hemophilia.

Treatment


The disease cannot be cured. Treatment for bleeding consists of the intravenous administration of the defective clotting factor. Educating the patient and his entourage is important: especially when it comes to being careful to avoid injury and how to react in case of bleeding. Small frequent cuts such as bleeding from the mouth and bleeding gums can be treated quickly with tranexanique acid.

Related

Original article published by . Translated by Jeff. Latest update on June 14, 2013 at 05:40 PM by Jeff.
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