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Related Experiment Videos

Prothrombin Quick. A newly identified dysprothrombinemia.

C A Owen, R A Henriksen, F C McDuffie

    Mayo Clinic Proceedings
    |January 1, 1978
    PubMed
    Summary

    Inherited bleeding disorders involving prothrombin are rare. This study identifies and names a new form, prothrombin Quick, and reviews other rare prothrombin abnormalities like hypoprothrombinemia and dysprothrombinemia.

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    Area of Science:

    • Hematology
    • Coagulation Science
    • Medical Genetics

    Background:

    • Inherited disorders of blood coagulation are uncommon, with prothrombin deficiencies being exceptionally rare.
    • Hypoprothrombinemia (reduced prothrombin levels) and dysprothrombinemia (functionally abnormal prothrombin) represent the known spectrum of these rare inherited conditions.

    Observation:

    • This study examines rare cases of inherited prothrombin abnormalities.
    • One patient, previously described by Quick, exhibits reduced prothrombin antigen with negligible prothrombic function.
    • Another patient described by Quick presents with true hypoprothrombinemia, lacking both functional and antigenic prothrombin.

    Findings:

    • A novel dysprothrombin variant is proposed, to be designated "prothrombin Quick".
    • The study reviews six families with dysprothrombinemia, ten with hypoprothrombinemia, and eight with unclassified prothrombin defects.
    • These findings underscore the genetic heterogeneity of prothrombin disorders.

    Implications:

    • Recognition of "prothrombin Quick" expands the classification of dysprothrombinemias.
    • Further research into these rare coagulopathies can improve diagnostic accuracy and patient management.
    • Understanding these genetic defects contributes to the broader knowledge of hemostasis and thrombosis.

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