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Congenital Prothrombin Deficiency: Diagnosis and Management

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Congenital Bleeding Disorders
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Abstract

Coagulation factor (F) II (Prothrombin) is a vitamin K-dependent coagulation factor, which has an essential role in coagulation cascade. This protein is activated to thrombin by Factor X in presence of FV and calcium. Congenital FII deficiency is an autosomal recessive bleeding disorder with an estimated incidence of 1:2,000,000 worldwide. This disorder mostly presents in regions with high rate of parental consanguinity and accounts for ~3% of all rare bleeding disorders (RBD). FII deficiency mostly presents with mucocutaneous hemorrhage, hematoma, and post-trauma bleeding. Life-threatening bleedings including central nervous bleeding and gastrointestinal bleeding are rarely occurred in these patients. More than 60 mutations have been reported within F2 gene, among them missense mutations are the most frequent. In general, family history, clinical manifestations, and routine coagulation laboratory tests should be used for diagnosing FII deficiency. FII deficiency is suspected through prolonged prothrombin time (PT) and activate thromboplastin time (aPTT), which is confirmed by a specific FII assay. As no specific prothrombin concentrate is available, prothrombin complex concentrate (PCC) or fresh frozen plasma (FFP) are currently used for treatment of prothrombin deficiency.

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De Cristofaro, R. (2023). Congenital Prothrombin Deficiency: Diagnosis and Management. In: Dorgalaleh, A. (eds) Congenital Bleeding Disorders . Springer, Cham. https://doi.org/10.1007/978-3-031-43156-2_7

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  • DOI: https://doi.org/10.1007/978-3-031-43156-2_7

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