Factor XI deficiency

Definition:

Factor XI (FXI) deficiency is an injury-related bleeding disorder common in Ashkenazi Jews and rare worldwide. FXI deficiency is characterized by infrequent spontaneous bleeding, but increased risk of hemorrhagic complications especially after trauma or surgery. More than 180 mutations in the FXI gene have been reported in patients with FXI deficiency.

References:

[1]. Massimo Franchini, et al. The use of desmopressin in congenital factor XI deficiency: a systematic review. Ann Hematol. 2009 Oct;88(10):931-5. [Content Brief]

[2]. Stefano Duga, et al. Factor XI Deficiency. Semin Thromb Hemost. 2009 Jun;35(4):416-25. [Content Brief]

[3]. U Seligsohn, et al. Factor XI deficiency in humans. J Thromb Haemost. 2009 Jul;7 Suppl 1:84-7. [Content Brief]

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