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.