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Haemophilia

Authoring team

These are a group of genetic disorders characterized by a deficiency of one of the coagulation pathway factors.

Haemophilia A is characterized by a deficiency of one subunit of factor VIII (factor VIII C).

Haemophilia B is the result of a deficiency of factor IX.

Von Willebrand's disease is a result of a variable deficiency of subunits of factor VIII (factor VIII RAG and factor VIII RiCoF) with a relatively normal factor VIII C level.

Reference

  1. Srivastava A, Santagostino E, Dougall A, et al. World Federation of Haemophilia guidelines for the management of haemophilia, 3rd edition. Haemophilia. 2020 Aug;26 Suppl 6:1-158.

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