Summary
Three members of the same family were found to have a clotting defect consistent with the diagnosis of heterozygous factor X Friuli disorder. The main features of the defect were a mild prolongation of prothrombin time and partial thromboplastin time, but a normal Stypven-Cephalin clotting time. Factor X activity was 40–50% of normal using tissue thromboplastin, but was perfectly normal using Russell's viper venom and cephalin. Using chromogenic substrate S-2222 the level was 30% of normal. Immunologically, factor X was normal. Bleeding manifestations were mild if any. The hereditary pattern was autosomal. The family comes from an area far away from Friuli and represents the first example of factor X Friuli discovered outside the Friuli.
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Supported by grants from the M.P.I. Rome (grant 1592–1981) and from the Veneto Regional Government, Venice
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Girolami, A., Lazzarin, M., Procidano, M. et al. A family with heterozygous factor X friuli defect outside friuli. Blut 46, 149–154 (1983). https://doi.org/10.1007/BF00320273
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DOI: https://doi.org/10.1007/BF00320273