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Congenital afibrinogenaemia.

S Mehta, S R Mehta, H Malhotra

    The Journal of the Association of Physicians of India
    |October 1, 1989
    PubMed
    Summary
    This summary is machine-generated.

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    Congenital afibrinogenemia is a rare bleeding disorder characterized by a complete absence of fibrinogen. This case highlights its severe hemorrhagic manifestations and probable autosomal recessive inheritance pattern.

    Area of Science:

    • Hematology
    • Genetics
    • Pediatrics

    Background:

    • Congenital afibrinogenemia is a rare inherited bleeding disorder.
    • It results from mutations in genes responsible for fibrinogen synthesis.
    • Affected individuals present with severe bleeding tendencies from birth.

    Observation:

    • A young female child presented with a lifelong hemorrhagic tendency.
    • Symptoms included prolonged umbilical bleeding and easy bruising.
    • Two brothers had similar bleeding issues, with one dying neonatally and another in childhood from hemorrhage.

    Findings:

    • Complete absence of blood coagulability was observed.
    • Coagulation tests were grossly abnormal, with undetectable fibrinogen levels.
    • Erythrocyte Sedimentation Rate (ESR) was zero, and thrombin time corrected after fibrinogen infusion.

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    Implications:

    • The family history suggests an autosomal recessive mode of inheritance for this condition.
    • This case underscores the critical role of fibrinogen in hemostasis.
    • Early diagnosis and management are crucial for patients with congenital afibrinogenemia.