title: Heterozygous and homozygous factor XI defect in consanguineous family.
abstract: 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.
mesh_terms: D000367:Age Factors; D005260:Female; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D010375:Pedigree