Prothrombin (Factor II) Deficiency


Due to the limited number of individuals with prothrombin deficiency worldwide, designing clinical trials evaluating diagnosis, bleeding tendency, and treatment remains a challenge. Investigations into novel laboratory methods to improve global assessment of hemostasis in RBDs have been performed, such as the use of thrombin generation (TG)43 and thromboelastography (TEG)44 for diagnosis and correlation to bleeding phenotype in comparison to current first tier labs of PT, PTT, and specific factor assays. In both of these studies, TG and TEG were shown to be potentially useful screening tests for diagnosis and predicting severe bleeding in RBDs. However, a very limited number of plasma samples from patients with prothrombin deficiency were included in these analyses. Prospective studies in a larger population of patients are necessary to validate these findings, especially in prothrombin deficiency.

International registries have been established and remain a critical resource to improve our knowledge of prothrombin deficiency and other rare bleeding disorders. National registries include the United Kingdom Haemophilia Centre Doctors’ Organization registry, the North American Rare Bleeding Disorders Registry, the Indian registry, and the European Network of Rare Bleeding Disorders.