Premium
A CRM‐Positive Variant of Factor‐VII Deficiency and the Detection of Heterozygotes with the Assay of Factor‐like Antigen
Author(s) -
Mazzucconi M. G.,
Mandelli F.,
Mariani G.,
Briët E.,
Veltkamp J. J.
Publication year - 1977
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.1365-2141.1977.tb05762.x
Subject(s) - factor vii , heterozygote advantage , antigen , factor ix , loss of heterozygosity , antibody , neutralization , risk factor , chemistry , immunology , microbiology and biotechnology , medicine , biology , biochemistry , allele , coagulation , gene
S ummary . Nine patients with severe factor‐VII deficiency, belonging to seven pedigrees were studied for the presence of factor‐VII‐CRM with an inhibitor neutralization assay. The antibody, raised in rabbits, did not precipitate the antigen and could only be used in a fluid phase assay to measure the capacity of plasma to neutralize inhibitory activity directed against factor‐VII activity. In one of these nine patients normal amounts of factor‐VII‐CRM could be demonstrated. The CRM+ patient did not show a clinical picture at variance with that of the CRM — patients. The investigation into this CRM+ pedigree revealed heterozygosity in nine out of 12 persons when using the ratio between biological factor‐VII activity and factor‐VII‐CRM as the criterion.