title: Antithrombin III Alger: a new homozygous AT III variant.
abstract: A qualitative abnormality of antithrombin III (AT III) was found in the plasma of a 41-year old patient. The plasmatic AT III antigen concentration was 130% and the progressive anti-F IIa and anti-F Xa activities were normal (105% and 137%). The plasma heparin cofactor activity was less than 10%, when measured by F IIa or F Xa inhibition. Crossed immunoelectrophoresis of AT III in the presence of heparin revealed in the plasma an abnormal slow-moving peak. When tested by affinity chromatography on heparin Sepharose, this abnormal AT III did not bind to heparin. Among the investigated relatives, 5 subjects had normal AT III levels, whatever the test used, the nine others having reduced levels of antithrombin heparin cofactor activity (45-61%) but normal levels of immunoreactive AT III (97-122%). Consanguinity was found in the family history. We therefore considered our patient as homozygous for an AT III molecular abnormality affecting the binding site for heparin.
mesh_terms: D000328:Adult; D000990:Antithrombin III / Q000032:analysis / Q000097:blood / Q000235:genetics*; D002846:Chromatography, Affinity / Q000379:methods; D005340:Fibrinogen / Q000032:analysis; D006493:Heparin / Q000378:metabolism; D006720:Homozygote; D006801:Humans; D007123:Immunoelectrophoresis, Two-Dimensional; D008297:Male; D010375:Pedigree
chemical_list: C049314:antithrombin III Alger; D000990:Antithrombin III; D005340:Fibrinogen; D006493:Heparin