Antithrombin III Alger: A New Homozygous AT III Variant

A M Fischer; P Cornu; C Sternberg; F Mériane; M D Dautzenberg; O Chafa; S Beguin; M Desnos

doi:10.1055/s-0038-1661525

Thrombosis and Haemostasis, Table of Contents

Thromb Haemost 1986; 55(02): 218-221
DOI: 10.1055/s-0038-1661525

Original Article

Schattauer GmbH Stuttgart

Antithrombin III Alger: A New Homozygous AT III Variant

Authors

A M Fischer

^*The Département d’Hématologie, C. H. U. Necker-Enfants Malades, Paris, France
P Cornu

^*The Département d’Hématologie, C. H. U. Necker-Enfants Malades, Paris, France
C Sternberg

^*The Département d’Hématologie, C. H. U. Necker-Enfants Malades, Paris, France
F Mériane

^**The Laboratoire d’Hématologie, C. H. U. Mustapha, Alger, Algérie
M D Dautzenberg

^*The Département d’Hématologie, C. H. U. Necker-Enfants Malades, Paris, France
O Chafa

^**The Laboratoire d’Hématologie, C. H. U. Mustapha, Alger, Algérie
S Beguin

^*The Département d’Hématologie, C. H. U. Necker-Enfants Malades, Paris, France
M Desnos

^***The Service de Cardiologie, Hôpital Boucicaut, Paris, France

Abstract

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Summary

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 Ila 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.

Key words

Antithrombin III - Homozygosity - Heparin cofactor Summary

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References

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