Congenital prothrombin deficiency
Definition:
Prothrombin (factor II) deficiency is an autosomal recessive disorder associated with moderate or severe bleeding tendency. It occurs in approximately 1 in 1-2 million people. Prothrombin is activated to thrombin, which in turn proteolytically cleaves fibrinogen to fibrin and contributes to forming a stable fibrin clot.
References:
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[1]. Eric Pasmant, et al. A severe neonatal presentation of factor II deficiency. Eur J Haematol. 2011 Nov;87(5):464-6. [Content Brief]
[2]. S L Meeks, et al. Abnormalities of prothrombin: a review of the pathophysiology, diagnosis, and treatment. Haemophilia. 2008 Nov;14(6):1159-63. [Content Brief]
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