Pathology: Haemophilia A is a condition characterized by a low level of the naturally-occurring factor VIII, while haemophilia B is characterized by a low level of the naturally-occurring factor IX.
Aetiology: Haemophilia is an X-linked genetic defect that affects males only, although a female may act as a carrier.
Symptoms: The most common symptoms are bleeding and bruising, often on a frequent or sudden basis.
Signs: The signs of haemophilia can include haemarthrosis, which is the spontaneous bleeding into the muscles and soft tissue, as well as haematuria and GI bleeds.
Investigation: A clotting screen should be conducted, which will generally result in a prolonged APTT test, a normal PT test, a normal vWF test, and a decreased Factor VIII or Factor IX for haemophilia A or B, respectively.
Treatment: Medical: The primary medical treatments for haemophilia include the replacement or supplementation of the deficient factor as well as the use of drugs such as desmopressin, which can help to increase the level of factor VIII.
Complications: Complications of haemophilia may include chronic arthropathies, as well as the contraction of diseases such as hepatitis A, B, C, HIV, and variant Creutzfeldt-Jakob Disease.
Prognosis: The prognosis for a person with haemophilia is generally much improved when the appropriate prophylactic therapy and recombinant factor replacement treatments are administered. Without timely factor replacement, fatal hemorrhage can occur.
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