Zusammenfassung
Bei 43 Patienten aus verschiedenen Familien mit Hämophilie B wurde die Faktor VII- und Faktor IX-Aktivität und Faktor VII-Antigen und das Faktor IX-assoziierte Antigen in frischen und tiefgefrorenen Plasmaproben untersucht. Bei 12 Patienten war die Faktor VII-Aktivität bei Verwendung verschiedener Thromboplastinchargen auf etwa 50% erniedrigt. Bei einem weiteren Patienten war Faktor VII in 1 ∶ 10 verdünntem Plasma vermindert, nicht jedoch in stärker verdünntem Plasma. Bei den übrigen 30 Patienten war die Faktor VII-Aktivität normal. Bei allen Patienten war das Faktor VII-Antigen normal. Die Patienten mit Hämophilie B und einem zusätzlichen Faktor VII-Defekt stellen eine Variante der Hämophilie B dar. Der zusätzliche Defekt ist am ehesten auf eine verminderte Aktivierung des Faktors VII zurückzuführen.
Summary
Factor VII activity and cross-reacting material was assayed in fresh and deep frozen non-contacted plasma in 43 patients with Hemophilia B belonging to different kindreds.
Factor VII activity was found to be slightly decreased (about of 50% normal) in 12 patients, regardless of the thromboplastin used. In an additional patient (hemophilia Bm) factor VII was slightly decreased in 1∶ 10 diluted plasma but was normal in further diluted plasma. In the remaining 30 patients factor VII activity was normal. No significant variation was found between fresh and deep frozen plasmas. Factor VII antigen or cross-reacting material was normal.
These patients with associated factor VII defect represent a distinct variant of hemophilia B. The defect seems to be due to a faulty activation of factor VII but the underlying mechanism remains unclear.
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This study was supported in part by a grant from the M.P.I., Rome (grant 1592-77) and by a grant from the Venetian Region, Venice.
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Girolami, A., Dal Bo Zanon, R., De Marco, L. et al. Hemophilia B with associated factor VII deficiency: A distinct variant of hemophilia B with low factor VII activity and normal factor VII antigen. Blut 40, 267–273 (1980). https://doi.org/10.1007/BF01080186
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DOI: https://doi.org/10.1007/BF01080186