Combined factor V and factor VII deficiency due to an independent segregation of the two defects.
A patient with combined factor V and factor VII deficiency is described together with a family study. The propositus appeared to be double heterozygous for factor V and factor VII deficiency. Since the patient showed a parallel decrease of activity and antigen, he appeared to be double heterozygous for a true deficiency. The patient had inherited the factor V defect from the mother and the factor VII defect from the father. The parents of the propositus were not consanguineous. Other family members were found to have isolated factor V or factor VII deficiency. This is the third family so far described with this peculiar combined defect but the first to be investigated by clotting and immunologic assays.
Girolami
A
A
University of Padua Medical School, Institute of Medical Semeiotics, Italy.
Zanon
E
E
Bertomoro
A
A
Gavasso
S
S
Fadin
M
M
D000293:Adolescent; D000941:Antigens / Q000097:blood; D001780:Blood Coagulation Tests; D020090:Chromosome Segregation; D005165:Factor V / Q000276:immunology / Q000378:metabolism; D005166:Factor V Deficiency / Q000235:genetics*; D005167:Factor VII / Q000276:immunology / Q000378:metabolism; D005168:Factor VII Deficiency / Q000235:genetics*; D005192:Family Health; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D011517:Prothrombin Time
D000941:Antigens; D005165:Factor V; D005167:Factor VII