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Haemophilia C

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Definition

noun

A form of haemophilia that is caused usually by a deficiency in blood clotting factor XI due to a gene defect on chromosome 4, and is characterized by milder symptoms and hemorrhages only after a major surgery or injury


Supplement

Haemophilia is a congenital tendency to uncontrolled bleeding from the mouth, gums, lips, and tongue. Haemophilia A and haemophilia B are the more common forms of haemophilia caused by deficiency in factor VIII and factor IX, respectively. Haemophilia C is a form of haemophilia that is caused by a deficiency in factor XI. Factor XI is a component of the blood coagulation system responsible for the formation of blood clot that stabilizes the platelet plug during hemostasis. It is, in particular, a blood clotting factor that when activated works with calcium ion to activate clotting factor IX. A deficiency in the production of factor XI could disrupt the blood coagulation cascade and impair blood clot formation.

Haemophilia C, compared with other forms of haemophilia, is a milder form (e.g. no bleeding into the joints) and affects both males and females. Nevertheless, cases of haemophilia C occur predominantly in Jewish people of Ashkenazi descent. And apart from gene defect in chromosome 4, it may arise in individuals with certain pathologic conditions, such as systemic lupus erythematosus. Individuals with haemophilia C are often unaware that they have it since the symptoms are milder and haemorrhages occur only after a major surgery or injury.


Variant(s):

  • hemophilia C

Synonym(s):

  • plasma thromboplastin antecedent (PTA) deficiency
  • Rosenthal syndrome
  • factor XI deficiency
  • coagulation factor XI deficiency
  • clotting factor XI deficiency
  • FXI deficiency

See also: