Combined Congenital Hypodysfibrinogemia and Factor XI Deficiency in a Chinese Family.

Combined Congenital Hypodysfibrinogemia and Factor XI Deficiency in a Chinese Family. Acta Haematol. 2020 Jan 24;:1-6 Authors: Peng Y, Nie L, Qin C, Wan L, Zhou P Abstract Both congenital hypodysfibrinogenemia and factor XI deficiency are rare coagulopathies caused by mutations within the fibrinogen and F11 genes, respectively. To investigate the pathogenesis of combined congenital hypodysfibrinogenemia with factor XI (FXI) deficiency in a Chinese family, coagulation assays, FXI activity (the 1-stage method), fibrinogen activity (the Clauss method), and antigen (prothrombin time [PT]-derived method) were performed. The sequences of fibrinogen genes and F11 were amplified by PCR and analyzed by direct sequencing. The proband as well as his grandmother, father, aunt, and sister showed a low plasma concentration of fibrinogen measured by the Clauss method and a slightly decreased result by the PT-derived method; finally, c.1097A>G in exon 8 of FGG was detected in the pedigree, which caused His340Arg mutation. His grandfather had a slightly prolonged activated partial thromboplastin time (APTT) due to low FXI activity. FXI deficiency was a compound heterozygote inherited with missense mutations of c.434A>G in exon 5 as well as c.1253G>T in exon 11 which caused HGV p.His145Arg and Gly400Val mutations, respectively. The grandfather had no qualitative or quantitative defect in fibrinogen. The proband and his father and aunt had c.434A>G at the exon ...
Source: Acta Haematologica - Category: Hematology Authors: Tags: Acta Haematol Source Type: research

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Conditions:   Post-polypectomy Bleeding;   Bowel Preparation;   Urgent Colonoscopy Intervention:   Behavioral: Bowel preparation Sponsor:   Ningbo No. 1 Hospital Completed
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Source: Scandinavian Journal of Gastroenterology - Category: Gastroenterology Tags: Scand J Gastroenterol Source Type: research
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Source: Medical Science Monitor - Category: Research Tags: Med Sci Monit Source Type: research
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