Haemophilia A
Haemophilia A (pronounced: hee-muh-FIL-ee-uh A) is a genetic disorder that impairs the body's ability to make blood clots, a process needed to stop bleeding. This results in people bleeding longer after an injury, easy bruising, and an increased risk of bleeding inside joints or the brain.
Etymology
The term "Haemophilia" originates from the Greek words "haima" (blood) and "philia" (love), indicating an affection for blood. The "A" in Haemophilia A refers to the specific deficiency in clotting factor VIII.
Causes
Haemophilia A is caused by a mutation in the Factor VIII gene, which is located on the X chromosome. This gene provides instructions for making a protein that is essential for blood clotting.
Symptoms
Common symptoms of Haemophilia A include:
- Bleeding into joints and muscles
- Spontaneous or prolonged bleeding after injuries or surgery
- Blood in urine or stool
- Unexplained and excessive bruising
Diagnosis
Haemophilia A is diagnosed through a series of blood tests that measure the amount of clotting factors in the blood.
Treatment
While there is no cure for Haemophilia A, it can be managed with regular infusions of Factor VIII. Other treatments include Desmopressin (a hormone that stimulates the release of stored Factor VIII) and Antifibrinolytic drugs (which prevent clots from breaking down).
Related Terms
- Haemophilia B: A similar condition caused by a deficiency of Factor IX.
- Von Willebrand disease: A bleeding disorder caused by a deficiency of von Willebrand factor, which helps blood platelets form clots.
External links
- Medical encyclopedia article on Haemophilia A
- Wikipedia's article - Haemophilia A
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