HAEMOPHILIA C Meaning and
Definition
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Haemophilia C, also known as factor XI deficiency, is a hereditary bleeding disorder characterized by the lack or reduced levels of clotting factor XI (FXI) in the blood. Clotting factors are proteins in the blood that help control the process of clotting, preventing excessive bleeding and promoting wound healing.
Unlike other types of haemophilia, such as haemophilia A or B, which are inherited in an X-linked recessive manner affecting males, haemophilia C is inherited in an autosomal recessive pattern, meaning both males and females can be affected. It is caused by mutations in the F11 gene, which provides instructions for producing FXI.
Individuals with haemophilia C may experience prolonged bleeding after injury or surgery, even for minor wounds, nosebleeds, or dental extractions. In some cases, abnormal bleeding can occur spontaneously without an apparent cause. Joint swelling, bruising, and easy bruising are also common symptoms.
Diagnosis of haemophilia C is typically made through a blood test to measure the levels of FXI. Treatment options for haemophilia C generally involve replacing the missing clotting factor in the blood through intravenous infusions of plasma-derived or recombinant FXI concentrates. Desmopressin, a medication that promotes the release of clotting factors, may be used in some cases to increase FXI levels.
Overall, haemophilia C is a rare bleeding disorder characterized by a deficiency of clotting factor XI, which can lead to abnormal bleeding and a variety of associated symptoms. Early diagnosis and appropriate management can help individuals with haemophilia C live a normal, healthy life.
Etymology of HAEMOPHILIA C
The term "haemophilia C" is derived from two main sources: the word "haemophilia" and the letter "C".
1. Haemophilia: The word "haemophilia" has Greek origins. It is a combination of two Greek terms - "haima" meaning "blood" and "philia" meaning "love" or "tendency". Therefore, "haemophilia" essentially translates to "a love for blood" or "a tendency to bleed". This term was first used in the mid-19th century to describe a hereditary bleeding disorder.
2. The letter C: The letter "C" in "haemophilia C" signifies a specific type or classification of the disorder. In this context, "C" stands for "coagulation". Haemophilia C is a specific subtype of the disorder caused by a deficiency in coagulation factor XI.
