Haemophilia C
Haemophilia C (pronounced: hee-muh-FIL-ee-uh see), also known as Factor XI deficiency or Rosenthal syndrome, is a rare genetic disorder that affects the blood's ability to clot.
Etymology
The term "Haemophilia C" is derived from the Greek words "haima" (blood) and "philia" (love), indicating an abnormal affinity for bleeding. The "C" denotes its distinction from Haemophilia A and B, which are caused by deficiencies in different clotting factors. The condition is also named after Dr. Eric Rosenthal, who first described it in 1953.
Definition
Haemophilia C is characterized by a deficiency in coagulation factor XI, a protein in the blood that plays a crucial role in the clotting process. Unlike Haemophilia A and B, which are X-linked recessive disorders, Haemophilia C is an autosomal disorder, meaning it affects both males and females equally.
Symptoms
Symptoms of Haemophilia C can vary widely, from mild to severe. They may include prolonged bleeding after surgery or injury, nosebleeds, easy bruising, and in severe cases, spontaneous bleeding into joints and muscles.
Diagnosis
Diagnosis of Haemophilia C is typically made through a blood test that measures the level of factor XI in the blood. A level below 70% of normal is generally considered indicative of Haemophilia C.
Treatment
Treatment for Haemophilia C typically involves infusions of factor XI concentrate to replace the missing clotting factor. However, because the condition is relatively mild compared to other forms of haemophilia, treatment may not be necessary unless the individual is undergoing surgery or has suffered a significant injury.
See also
External links
- Medical encyclopedia article on Haemophilia C
- Wikipedia's article - Haemophilia C
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