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Concept
Haemophilia A
Résumé
Haemophilia A (or hemophilia A) is a genetic deficiency in clotting factor VIII, which causes increased bleeding and usually affects males. In the majority of cases it is inherited as an X-linked recessive trait, though there are cases which arise from spontaneous mutations.
Factor VIII medication may be used to treat and prevent bleeding in people with haemophilia A.
In terms of the symptoms of haemophilia A, there are internal or external bleeding episodes. Individuals with more severe haemophilia have more severe and more frequent bleeding, while others with mild haemophilia typically have more minor symptoms except after surgery or serious trauma. Moderate haemophiliacs have variable symptoms which manifest along a spectrum between severe and mild forms.
Prolonged bleeding from a venepuncture or heelprick is another common early sign of haemophilia, these signs may lead to blood tests which indicate haemophilia. In other people, especially those with moderate or mild haemophilia, any trauma will lead to the first serious bleed. Haemophilia leads to a severely increased risk of prolonged bleeding from common injuries, or in severe cases bleeding may be spontaneous and without obvious cause. Bleeding may occur anywhere in the body, superficial bleeding such as those caused by abrasions, or shallow lacerations may be prolonged and the scab may easily be broken up due to the lack of fibrin, which may cause re-bleeding. While superficial bleeding is troublesome, some of the more serious sites of bleeding are:
Joints
Muscles
Digestive tract
Brain
Muscle and joint haemorrhages – or haemarthrosis – are indicative of haemophilia, while digestive tract and cerebral haemorrhages are also germane to other coagulation disorders. Though typically not life-threatening, joint bleeding is one of the most serious symptoms of haemophilia. Repeated bleeds into a joint capsule can cause permanent joint damage and disfigurement resulting in chronic arthritis and disability. Joint damage is not a result of blood in the capsule but rather the healing process.
Source officielle
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