Study of Different Factor VII Deficiency Variants in Nine Families from Spain

Abstract

Twenty-three patients with congenital factor VII (FVII) deficiency, belonging to 9 kindreds were studied. Immunological variants were classified according to the relationship between FVII coagulant activity (FVIIC) and the level of FVII antigen (FVIIAg), considering 3 previously described groups: VII-, VII+ and VIIR. Activation variants were determined by the reactivity pattern with three different thromboplastins. One patient was classified as VII-, 16 as VII+, and 6 as VIIR. Three patients belonging to the same kindred showed a Padua 2 FVII deficiency, and 1 patient showed a Padua 1 variant. There was no correlation between antigenic or activation variants and severity of bleeding tendency. Classical autosomal recessive mode of inheritance was observed in VII- and VII+ families. Nevertheless, a possible autosomal dominant trait was observed in VII+ kindreds.

First report of homozygous factor VII Padua (Arg304Gln) defect in a family from Argentina

“…The proposita refers a Spanish background. This is not surprising since occasional patients with a clotting pattern compatible with a FVII Padua diagnosis have been described in Spain [31]. However there is no molecular biology demonstration of the defect.…”

Therapie des schweren Faktor-VII-Mangels bei Mitgliedern der Zeugen Jehovas

“…Wie bereits in der Literatur beschrieben [14], lag auch bei unseren Patienten mit Faktor-VII-Mangel eine autosomal-rezessiv vererbte Erkrankung vor. Pfeiffer et al [13] konnten 1982 nachweisen, daß das Faktor-VII-Gen auf Chromosom 13 lokalisiert ist [13].…”