Different forms of AT-III congenital defect: a study by crossed immunoelectrofocusing.
Antithrombin III (AT-III) deficiency may be due to quantitative or qualitative AT-III reduction. The diagnosis of qualitative disorder is suspected when a discrepancy is found between immunological and functional levels of AT-III. Heterogeneity has been hypothesized in both quantitative and qualitative deficiency of AT-III. A technique based on crossed immunoelectrofocusing (CIEF) was applied to investigate molecular variants of AT-III. 3 families with low functional and immunological levels of AT-III and 1 family with only a low functional AT-III level were investigated. An abnormal AT-III pattern was found with CIEF in the family with suspected qualitative disorder and in 1 of the families with quantitative disorder. The 2 abnormal patterns were different. Thus the use of CIEF AT-III patterns could help to define congenital AT-III deficiencies and could serve as a basis for classification of different forms of AT-III deficiency.
D000328:Adult; D020152:Antithrombin III Deficiency; D002648:Child; D005260:Female; D006801:Humans; D006863:Hydrogen-Ion Concentration; D007123:Immunoelectrophoresis, Two-Dimensional; D008297:Male; D008875:Middle Aged; D010689:Phlebitis / Q000097:blood / Q000235:genetics*