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Pilger, E; Schenk, H; Haralambus, J; Sailer, S.
Clinical studies of familial hereditary factor VII deficiency (author's transl)
BLUT. 1981; 42(5): 297-306. Doi: 10.1007/BF00996846 (- Case Report)
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Leading authors Med Uni Graz: Pilger Ernst
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Abstract:: The discovery of a severe factor VII deficiency with increased bleeding tendency resulted in investigations of 22 members of the family. In the propositus and in two of his siblings a severe hypoproconvertinemia was demonstrated, a partial deficiency was found in ten persons. Studies of the family confirmed that this disorder is transmitted by an autosomal gene with intermediate penetrance. The mutated gene produces a severe deficiency in the homozygote and partial deficiency in the heterozygote. The parents of the homozygote patients were consanguineous. Hemorrhagic diathesis was noted only in patients with a severe factor VII deficiency. Causes for the variability of the clinical manifestations are discussed.
Find related publications in this database (using NLM MeSH Indexing): Adult -; Factor VII Deficiency - complications; Hemorrhagic Disorders - etiology; Heterozygote - etiology; Homozygote - etiology; Humans - etiology; Male - etiology; Middle Aged - etiology; Mutation - etiology; Pedigree - etiology