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Factor VII Padua defect: the heterozygote population.

A Girolami, R Dal Bo Zanon, F Zanella

    Acta Haematologica
    |January 1, 1982
    PubMed
    Summary

    Individuals with the Factor VII Padua defect, a genetic blood disorder, show mild prothrombin time prolongation. This finding aids in understanding genetic coagulation factor variations and their geographic clustering.

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    Area of Science:

    • Hematology
    • Genetics
    • Molecular Biology

    Background:

    • Factor VII Padua defect is a rare inherited bleeding disorder.
    • Heterozygote carriers are typically asymptomatic but may exhibit laboratory abnormalities.
    • Understanding the clinical and laboratory spectrum of factor VII deficiency is crucial for diagnosis and management.

    Purpose of the Study:

    • To investigate the clinical and laboratory characteristics of heterozygote patients with Factor VII Padua defect.
    • To determine the range of Factor VII activity and prothrombin time in affected individuals.
    • To explore the geographical distribution of Factor VII Padua defect in relation to other coagulation factor defects.

    Main Methods:

    • Investigated 14 heterozygote patients from three families with Factor VII Padua defect.
    • Assessed Factor VII activity levels and Factor VII cross-reacting material.
    • Measured prothrombin times and analyzed the correlation between Factor VII levels and prothrombin times.

    Main Results:

    • All 14 heterozygote patients were asymptomatic with mild prothrombin time prolongation.
    • Factor VII activity ranged from 45-61% of normal, distinct from homozygous or normal populations.
    • A significant negative correlation was observed between Factor VII levels and prothrombin times.

    Conclusions:

    • Heterozygosity for Factor VII Padua defect results in mild prothrombin time prolongation without clinical symptoms.
    • Factor VII activity levels in heterozygotes are identifiable and do not overlap with normal or homozygous ranges.
    • The geographical clustering of Factor VII Padua defect in northeastern Italy warrants further investigation.

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