Antithrombin Oslo: type Ib classification of the first reported antithrombin-deficient family, with a review of hereditary antithrombin variants.
Patients with classical antithrombin deficiency (Type I) from seven unrelated kindreds were studied by crossed immunoelectrophoresis of plasma in the presence and absence of heparin. The only abnormal pattern was found in the kindred first reported by Egeberg in 1965. An abnormal cathodal peak of antithrombin antigen was found in the presence, but not the absence, of heparin in the first dimension gel. We have named this variant antithrombin Oslo. Such evidence of an abnormal protein, despite equivalent low levels of antithrombin antigen and activity, has been denoted previously by Sas as Type Ib deficiency. In the context of this new report, we review the literature to date on 33 other variants of the Types Ib, II and III subclassifications with a discussion of the value of the classification scheme.
Hultin
M B
MB
Division of Hematology, State University of New York at Stony Brook.
McKay
J
J
Abildgaard
U
U
D000991:Antithrombins / Q000145:classification / Q000172:deficiency* / Q000235:genetics; D006801:Humans; D006814:Hungary; D007122:Immunoelectrophoresis
D000991:Antithrombins