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Clinical and Genetic characterization of 51 Patients with Congenital Fibrinogen Disorders from China.
Thromb Haemost
January 2025
Union Hospital of Huazhong University of Science & Technology, Institute of Hematology, Wuhan, China.
Objective To investigate the classification, clinical manifestations, laboratory findings, and genetic mutations associated with hereditary fibrinogen disorders in Chinese population. Methods Between February 2015 and February 2022, 65 patients with congenital fibrinogen disorders (CFD) were identified at Wuhan Union Hospital. Comprehensive data were available for 51 patients, allowing for a retrospective analysis.
View Article and Find Full Text PDF[Congenital dysfibrinogenemia: current status and challenges in diagnosis and treatment].
Zhonghua Xue Ye Xue Za Zhi
October 2024
Department of Hematology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing 100730, China.
Congenital dysfibrinogenemia (CDF) is the most common type of congenital fibrinogen disorders, characterized by dysfunctional fibrinogen. Its prevalence is significantly underestimated due to the absence of obvious clinical symptoms in most patients. In addition to bleeding manifestations, patients with CDF may experience thrombotic events or pregnancy-related complications.
View Article and Find Full Text PDFA novel γ-chain mutation p.Asp318His in a Chinese family with dysfibrinogenemia.
Blood Coagul Fibrinolysis
December 2024
Department of Clinical Laboratory, The Affiliated Hospital of Jiaxing University (The First Hospital of Jiaxing), Jiaxing, China.
Background: Congenital dysfibrinogenemia is characterized by reduced fibrinogen activity, but normal immunoreactive fibrinogen levels. Here, we present a novel case with an elevated risk of thrombosis.
Methods: Coagulation assays, gene analysis, in silico tools, sodium dodecyl sulfate polyacrylamide gel electrophoresis (SDS-PAGE), fibrin polymerization, thrombin generation assay, and electron microscopy scanning were utilized to elucidate the pathogenic mechanism.
Clinical, Laboratory, and Molecular Aspects of Congenital Fibrinogen Disorders.
Semin Thromb Hemost
August 2024
Department of Genetic Medicine and Development, Faculty of Medicine, University of Geneva, Geneva, Switzerland.
Congenital fibrinogen disorders (CFDs) include afibrinogenemia, hypofibrinogenemia, dysfibrinogenemia, and hypodysfibrinogenemia. The fibrinogen levels, the clinical features, and the genotype define several sub-types, each with specific biological and clinical issues. The diagnosis of CFDs is based on the measurement of activity and antigen fibrinogen levels as well as on the genotype.
View Article and Find Full Text PDFDysfibrinogenemia and hypofibrinogenemia - Spectrum of pathogenic variants in Slovak patients.
Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub
July 2024
Institute of Medical Biology, Genetics and Clinical Genetics, Faculty of Medicine and University Hospital Bratislava, Comenius University, Slovakia.
Introduction: Congenital hypofibrinogenemia (CH) and congenital dysfibrinogenemia (CD) are rare coagulation disorders caused by quantitative or qualitative defects in the fibrinogen gene. The aim of this study was to characterize the genetic background and the clinical manifestations of congenital fibrinogen disorders in the patients from Slovakia registered at the National Haemophilia Centre.
Materials And Methods: Results of genetic analysis of the fibrinogen genes FGA, FGB and FGG using polymerase chain reaction followed by direct sequencing were evaluated in 36 patients.
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