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Factor XIII deficiency

K Fried, S Kaufman, S Beer

    Clinical Genetics
    |December 1, 1981
    PubMed
    Summary
    This summary is machine-generated.

    This study describes a novel family with factor XIII deficiency, a rare bleeding disorder. Autosomal recessive inheritance is confirmed, ruling out X-linked transmission in affected families.

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    Area of Science:

    • Hematology
    • Genetics
    • Pediatrics

    Background:

    • Factor XIII deficiency is a rare inherited bleeding disorder.
    • Understanding its genetic basis is crucial for diagnosis and management.
    • Previous reports on Israeli families with this condition exist.

    Observation:

    • A previously unreported family with factor XIII deficiency, including a girl and her newborn brother, is presented.
    • Two additional Israeli families with factor XIII deficiency are reviewed.
    • Affected individuals were observed to have repeated hematomata and umbilical bleeding.

    Findings:

    • The study confirms autosomal recessive inheritance for factor XIII deficiency.
    • X-linked recessive inheritance was ruled out as a mode of transmission.

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  • Consanguinity was present in the parents of two out of the three families studied.

    • Implications:

    • This research contributes to the understanding of factor XIII deficiency genetics.
    • Accurate diagnosis and genetic counseling are vital for affected families.
    • Further research may elucidate specific genetic mutations within different populations.