Factor XII deficiency

Definition:

Factor XII (FXII) deficiency is a rare autosomal recessive disorder. Although FXII deficiency is not associated with a clinical bleeding tendency, FXII is an important protease that plays a major role in the initiation of the intrinsic pathway of blood coagulation. Venous or arterial thrombosis, recurrent miscarriages, and placental abruption were reported in cases with FXII deficiency.

References:

[1]. Evi Stavrou, et al. Factor XII: what does it contribute to our understanding of the physiology and pathophysiology of hemostasis & thrombosis. Thromb Res. 2010 Mar;125(3):210-5. [Content Brief]

[2]. Hidehiko Matsubayashi, et al. Decreased factor XII activity is associated with recurrent IVF-ET failure. Am J Reprod Immunol. 2008 Apr;59(4):316-22. [Content Brief]

[3]. Maristella D'Uva, et al. Acquired factor XII deficiency in a woman with recurrent pregnancy loss: working on a differential diagnosis in a single case. J Transl Med. 2005 Dec 2;3:43. [Content Brief]

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