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Factor VII Deficiency: Immunological Characterization of Genetic Variants and Detection of Carriers
Author(s) -
Mariani G.,
Mazzucconi M. G.,
Hermans J.,
Ciavarella N.,
Faiella A.,
Hassan H. J.,
Mannucci P. M.,
Nenci G. G.,
Orlando M.,
Romoli D.,
Mandelli F.
Publication year - 1981
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.1981.00007.x
Subject(s) - factor vii , antigen , genetics , inheritance (genetic algorithm) , biology , genetic variants , immunology , medicine , gene , genotype , coagulation
S ummary. Twenty‐one patients with congenital factor VII deficiency belonging to 16 different kindreds were investigated. The existence of three immunochemical variants on the ground of factor VII activity (VII:C) and factor VII‐related antigen (VII:Ag) levels (VII − , VII + and VII R ) was established. There was no correlation between the presence of factor VII:Ag and either the clinical picture or the specific function as studied with the K m calculations. Genetically the mode of inheritance is the same whatever the immunological variant, but the identification of carriers is simplified when the presence of factor VII‐related antigen is assayed throughout a kindred.