title: 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.
authors: Hospital Ramon y Cajal, Madrid.
authors: A
authors: A
authors: Pardo
authors: J P
authors: JP
authors: Oteyza
authors: L
authors: L
authors: Blanco
authors: M A
authors: MA
authors: Correa
authors: J
authors: J
authors: Cesar
authors: J L
authors: JL
authors: Steegman
authors: M
authors: M
authors: Tamayo
authors: I
authors: I
authors: Fernandez
authors: L
authors: L
authors: Escribano
authors: J L
authors: JL
authors: Navarro
mesh_terms: D000328:Adult; D000368:Aged; D000941:Antigens / Q000235:genetics*; D002648:Child; D005167:Factor VII / Q000235:genetics / Q000276:immunology*; D005168:Factor VII Deficiency / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D013030:Spain
chemical_list: D000941:Antigens; C042580:factor VII clotting antigen; C031500:factor VII related antigen; D005167:Factor VII