Study of different factor VII deficiency variants in nine families from Spain.
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.
Pardo
A
A
Hospital Ramon y Cajal, Madrid.
Oteyza
J P
JP
Blanco
L
L
Correa
M A
MA
Cesar
J
J
Steegman
J L
JL
Tamayo
M
M
Fernandez
I
I
Escribano
L
L
Navarro
J L
JL
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
D000941:Antigens; C042580:factor VII clotting antigen; C031500:factor VII related antigen; D005167:Factor VII