A CRM-Positive variant of factor-VII deficiency and the detection of heterozygotes with the assay of factor-like antigen.

Abstract

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.

• Authors: M G Mazzucconi, F Mandelli, G Mariani, E Briët, J J Veltkamp
• Journal: British journal of haematology (Br J Haematol) Vol. 36 Issue 1 Pg. 127-35 (May 1977) ISSN: 0007-1048 [Print] England
• PMID: 871417 (Publication Type: Journal Article)

Chemical References

• Antigens
• Factor VII

Topics

• Adolescent
• Adult
• Animals
• Antigens (analysis)
• Child
• Cross Reactions
• Factor VII (analysis, immunology)
• Factor VII Deficiency (genetics, immunology)
• Female
• Heterozygote
• Humans
• Male
• Middle Aged
• Neutralization Tests
• Pedigree
• Rabbits