ArticleClinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis
Clinical and Genetic Characterization of Factor XI Deficiency in Jordan: Identification of a Novel Splice-Site Mutation Associated with Severe Deficiency.
Article in Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
BackgroundFactor XI (FXI) deficiency is a rare bleeding disorder, common among Ashkenazi Jews. Affected individuals may present severe bleeding after trauma or surgery, which requires careful management. To date FXI deficiency has not been genetically or clinically described in the Jordanian population.Material and methodsSeventeen patients (median age 29) from 16 Jordanian Arab families, referred to the hemostasis and thrombosis laboratory at the University of Jordan, due to bleeding history or prolonged activated partial thromboplastin time. FXI deficiency was confirmed by factor assay (cutoff: ≤ 40% activity). Bleeding score was recorded, and Next Generation Sequencing of the
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