ArticleInternational journal of hematology2020
Comparison of clinical phenotype with genetic and laboratory results in 31 patients with congenital dysfibrinogenemia in northern Slovakia.
Article in International journal of hematology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 29 citations in OpenAlex.
- An exploratory plasma-based functional assay for phenotypic characterization of fibrinolysis in dysfibrinogenemia.Research and practice in thrombosis and haemostasis · 2026Article
- Dysfibrinogenemia and hypofibrinogenemia - Spectrum of pathogenic variants in Slovak patients.Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia · 2025Article
- Implications of the c.1201C > G (p.Arg401Gly) mutation inFrontiers in medicine · 2025Article
- Fibrinogen BOE II: dysfibrinogenemia with bleeding and defective thrombin binding.Research and practice in thrombosis and haemostasis · 2023Article
- Heterogeneity of Genotype-Phenotype in Congenital Hypofibrinogenemia-A Review of Case Reports Associated with Bleeding and Thrombosis.Journal of clinical medicine · 2022Review
- Inherited Thrombophilia in the Era of Direct Oral Anticoagulants.International journal of molecular sciences · 2022Review
- Development and validation of a novel qualitative test for plasma fibrinogen utilizing clot waveform analysis.Scientific reports · 2022Article
- Development of Transient Recombinant Expression and Affinity Chromatography Systems for Human Fibrinogen.International journal of molecular sciences · 2022Article
- Congenital Afibrinogenemia and Hypofibrinogenemia: Laboratory and Genetic Testing in Rare Bleeding Disorders with Life-Threatening Clinical Manifestations and Challenging Management.Diagnostics (Basel, Switzerland) · 2021Review
- TEGDiagnostics (Basel, Switzerland) · 2021Review
- Coagulation Abnormalities in Renal Pathology of Chronic Kidney Disease: The Interplay between Blood Cells and Soluble Factors.Biomolecules · 2021Article
- Thrombin-Binding Aptamer with Inversion of Polarity Sites (IPS): Effect on DNAzyme Activity and Anticoagulant Properties.International journal of molecular sciences · 2021Article
- Pharmacological Characterisation ofInternational journal of molecular sciences · 2021Article
- Interfacial Modeling of Fibrinogen Adsorption onto LiNbOInternational journal of molecular sciences · 2021Article
- Recombinant γY278H Fibrinogen Showed Normal Secretion from CHO Cells, but a Corresponding Heterozygous Patient Showed Hypofibrinogenemia.International journal of molecular sciences · 2021Article
- Congenital dysfibrinogenaemia presented with preterm premature rupture of the membranes and vaginal bleeding.BMJ case reports · 2020Article
- Genetic Variants in theInternational journal of molecular sciences · 2020Review
Corrections and comments
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Authors and funding
11 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital dysfibrinogenemia (CD) is a rare disorder of hemostasis. The majority of cases are caused by heterozygous missense mutations in one of the three fibrinogen genes. Patients with CD may experience bleeding and thrombosis, but many are asymptomatic. To better describe the clinical, laboratory, and genotypic picture of CD, we evaluated 31 patients from seven unrelated families using standard coagulation tests and genetic analysis. The clinical phenotype consisted of bleeding in 13/31 (42%) patients; other patients (18/31; 58%) were asymptomatic. Among patients with bleeding, symptoms were mostly in single anatomical sites, with variable intensity of bleeding. Compared to results from a previous large systematic survey, our results showed a similar mean bleeding score, but a higher incidence of bleeding episodes without thrombotic complications. In the present study, we identified three known pathogenic point mutations in the FGA (c.95G > A, c.104G > A) and FGB (c.586C > T) genes. The variants of CD identified in this cross-sectional study were either asymptomatic or had bleeding manifestations and showed similar laboratory features, irrespective of genotype. Results from genetic and clinical studies will continue to yield valuable information on the structure and function of the fibrinogen molecule.
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