Congenital afibrinogenemia
Congenital afibrinogenemia is a rare, genetically inherited blood fibrinogen disorder in which the blood does not clot normally. It is characterized by the complete absence of fibrinogen, a protein necessary for blood clotting.
Pronunciation
The term "Congenital afibrinogenemia" is pronounced as kənˈjenədl ˌāfīˌbrinəˈjēnēmēə.
Etymology
The term "Congenital afibrinogenemia" is derived from the Latin word "congenitus" meaning "born with," the Greek word "a-" meaning "without," and "fibrinogen" referring to the protein that helps in blood clotting, and "-emia" a suffix used in pathology to indicate a blood condition.
Symptoms
Symptoms of congenital afibrinogenemia may include bleeding, bruising, and in severe cases, hemorrhage.
Causes
Congenital afibrinogenemia is caused by mutations in the FGA, FGB, or FGG. These genes provide instructions for making the three parts (chains) of the fibrinogen protein.
Diagnosis
Diagnosis of congenital afibrinogenemia is typically made through a coagulation test, which measures the time it takes for a clot to form in a sample of blood.
Treatment
Treatment for congenital afibrinogenemia typically involves fibrinogen concentrate or cryoprecipitate to replace the missing fibrinogen.
See also
External links
- Medical encyclopedia article on Congenital afibrinogenemia
- Wikipedia's article - Congenital afibrinogenemia
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