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Related Experiment Videos

Factor XIII.

C S Kitchens, T F Newcomb

    Medicine
    |November 1, 1979
    PubMed
    Summary
    This summary is machine-generated.

    Factor XIII deficiency, a rare bleeding disorder, is caused by absent active factor XIII. This condition presents with bleeding symptoms and, in males, may be associated with oligospermia and small testes.

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    Area of Science:

    • Hematology
    • Genetics
    • Reproductive Medicine

    Background:

    • Activated factor XIII (FXIII) is crucial for fibrin cross-linking, enhancing clot strength and stability.
    • FXIII deficiency is a rare autosomal recessive disorder characterized by a hemorrhagic diathesis due to the absence of the active FXIII 'a' subunit.
    • Normal coagulation tests and platelet function are observed in individuals with FXIII deficiency.

    Observation:

    • Homozygotes exhibit umbilical stump bleeding, fetal wastage, delayed soft tissue hemorrhage, and intracranial bleeding.
    • Asymptomatic heterozygotes are noted.
    • A high incidence of oligospermia and small testes is observed in homozygote males, with normal secondary sexual characteristics.

    Findings:

    • Clots from FXIII-deficient plasma are soluble in 5 M urea or 1% monochloroacetic acid, serving as diagnostic screening tests.

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  • Quantitative tests like dansylcadaverine incorporation aid in definitive diagnosis and heterozygote detection.
  • Replacement therapy with factor XIII is effective, simple, and inexpensive.

    • Implications:

    • Early diagnosis and treatment of factor XIII deficiency are essential to manage bleeding risks.
    • Prophylaxis is feasible and recommended due to the long half-life of infused FXIII.
    • The association with male reproductive issues warrants further investigation and consideration in clinical management.