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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6714930PMC
http://dx.doi.org/10.1177/1076029619841701DOI Listing

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To present the clinical and laboratory implications of defects or variants of some clotting factors and of thrombomodulin that were discovered during the past few years.: Data concerning new aspects of FII, FV, FIX and thrombomodulin defects were investigated. This involved the dysprothrombinemias, the East Texas or short FV disorder, a FIX defect and a thrombomodulin abnormality.

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Article Synopsis
  • - Vitamin K-dependent clotting factors are now recognized as playing dual roles in both promoting and preventing blood clots, challenging previous classifications of these factors as purely hemorrhagic or thrombotic disorders.
  • - Recent discoveries, particularly mutations within factors IX and VII, have shown that certain genetic defects can lead to an increased risk of venous thrombosis rather than bleeding, indicating a complex interaction in coagulation.
  • - Advances in molecular biology have expanded our understanding of blood coagulation, revealing that defects in proteins like prothrombin can cause clotting issues even in the absence of bleeding tendencies.
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Clotting factor defects are usually associated with bleeding. About 2 decades ago, 2 polymorphisms, one of FII (G20210A) and another of FV (Arg506Gln), have been shown to be associated with prothrombotic state and venous thrombosis. As a consequence, FII and FV could be considered both as prohemorrhagic factors and prothrombotic conditions.

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Objective: Congenital prothrombin deficiency is one of the rarest clotting disorders. It is commonly subdivided in Type I defects or cases of 'true' prothrombin deficiency characterized by a concomitant decrease in FII activity and antigen and in Type II or dysprothrombinemias, in which FII activity is low but FII antigen is normal or near normal. A bleeding tendency, often a severe one, is the hallmark of the two-defects even though the bleeding is usually less severe in the Type 2 defects or dysprothrombinemias.

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