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Heterozygous and homozygous factor XI defect in consanguineous family

G I Ingram, C R Rizza

    Acta Haematologica
    |January 1, 1976
    PubMed

    A woman with symptoms of prolonged post-traumatic bleeding was found to have a severe defect of factor XI, and was thought to be homozygously affected. Both her parents, who were first cousins, and all her three children, though asymptomatic, showed a moderate defect and appeared to be heterozygous. Both her parents' factor XI levels were about twice those in her children, and this was thought to be an age effect.

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