Analysis of an Inherited Dysfibrinogenemia Pedigree Associated with a Heterozygous Mutation in the FGA Gene
Li, S.; Wang, M.; Li, X.; Xu, Q.; Liu, S.; Luo, S.; Chen, Y. · Zeitschrift für Orthopädie und Unfallchirurgie · 2020 · Heft 05 · S. 642 bis 648
Bibliografische Angaben
Zusammenfassung
Abstract Objective This article aims to analyze the phenotype and genotype of an inherited dysfibrinogenemia pedigree associated with a heterozygous mutation in the FGA gene, and to investigate the pathogenesis of this disease. Clinical Presentation The proband of interest is a 29-year-old woman. She was in her 37 weeks of gestation. Routine coagulation tests showed low fibrinogen activity (0.91 g/L; normal range: 2.0–4.0 g/L) and normal fibrinogen antigen (FIB:Ag) level (2.09 g/L; normal range: 2.0–4.0 g/L). Techniques The prothrombin time, activated partial thromboplastin time, thrombin time, and activity of p…
