Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Familial functional antithrombin III deficiency

P J Sørensen, J Dyerberg, E Stoffersen

    Scandinavian Journal of Haematology
    |February 1, 1980
    PubMed
    Summary
    This summary is machine-generated.

    Related Concept Videos

    You might also read

    Related Articles

    Articles linked to this work by shared authors, journal, and citation graph.

    Sort by
    Same author

    Protein-based HDL subspecies: Rationale and association with cardiovascular disease, diabetes, stroke, and dementia.

    Biochimica et biophysica acta. Molecular and cell biology of lipids·2022
    Same author

    Assessing the Validity of Adult-derived Prognostic Models for Primary Sclerosing Cholangitis Outcomes in Children.

    Journal of pediatric gastroenterology and nutrition·2019
    Same author

    Human walk-to-run transition in the context of the behaviour of complex systems.

    Human movement science·2019
    Same author

    Ursodeoxycholic Acid Therapy in Pediatric Primary Sclerosing Cholangitis: Predictors of Gamma Glutamyltransferase Normalization and Favorable Clinical Course.

    The Journal of pediatrics·2019
    Same author

    Gamma Glutamyltransferase Reduction Is Associated With Favorable Outcomes in Pediatric Primary Sclerosing Cholangitis.

    Hepatology communications·2018
    Same author

    Alcohol consumption and the risk of incident pulmonary embolism in US women and men.

    Journal of thrombosis and haemostasis : JTH·2018
    Same journal

    Role of iron in the proliferation of the established human tumor cell lines U-937 and K-562: effects of suramin and a lipophilic iron chelator (PIH).

    Scandinavian journal of haematology·1986
    Same journal

    The efficacy and toxicity of VAD in the treatment of myeloma and related disorders.

    Scandinavian journal of haematology·1986
    Same journal

    RES phagocytosis in children with homozygous beta-thalassemia in relation to blood transfusion.

    Scandinavian journal of haematology·1986
    Same journal

    Two allotypes of factor IX present in haemophilia B.

    Scandinavian journal of haematology·1986
    Same journal

    Radioimmunoassay of erythropoietin in chronic uraemia or anephric patients.

    Scandinavian journal of haematology·1986
    Same journal

    Prognostic significance of a morphometric study of lymph node biopsies in chronic lymphocytic leukaemia.

    Scandinavian journal of haematology·1986
    See all related articles

    A family showed a hereditary defect in antithrombin III (AT III) activity, leading to thrombosis. Testing AT III biological activity is crucial for patients with recurrent blood clots.

    Area of Science:

    • Biochemistry
    • Hematology
    • Genetics

    Background:

    • Thrombosis is a significant health concern, often linked to coagulation factor deficiencies.
    • Antithrombin III (AT III) is a key inhibitor of coagulation, and its dysfunction can increase thrombotic risk.

    Observation:

    • A family presented with a history of recurrent thrombotic episodes.
    • Seven family members exhibited a defect in plasma antithrombin III (AT III) activity.
    • Immunoreactive AT III levels were normal, suggesting a functional rather than quantitative defect.

    Findings:

    • The study identified a hereditary defect characterized by decreased functional antithrombin III (AT III) activity.
    • Four affected individuals experienced significant thrombotic events, correlating with the AT III defect.

    Related Experiment Videos

  • This highlights a specific type of inherited thrombophilia linked to impaired AT III function.

    • Implications:

    • Emphasizes the necessity of functional biological assays for antithrombin III (AT III) in diagnosing thrombophilia.
    • Suggests that genetic screening for AT III functional deficiency may be warranted in families with a history of thrombosis.
    • Understanding this defect is vital for developing targeted anticoagulant therapies and preventative strategies.