Abnormal Antithrombin III (Antithrombin III ‘Budapest’) as a Cause of a Familial Thrombophilia

G Sas; G Blaskó; D Bánhegyi; J Jákó; L. Á Pálos

doi:10.1055/s-0038-1647677

Thrombosis and Haemostasis, Table of Contents

Thromb Haemost 1974; 32(01): 105-115
DOI: 10.1055/s-0038-1647677

Original Article

Schattauer GmbH

Abnormal Antithrombin III (Antithrombin III ‘Budapest’) as a Cause of a Familial Thrombophilia

G Sas

¹First Department of Medicine, Postgraduate Medical School, Budapest, Hungary

,

G Blaskó

¹First Department of Medicine, Postgraduate Medical School, Budapest, Hungary

,

D Bánhegyi

¹First Department of Medicine, Postgraduate Medical School, Budapest, Hungary

,

J Jákó

¹First Department of Medicine, Postgraduate Medical School, Budapest, Hungary

,

L. Á Pálos

¹First Department of Medicine, Postgraduate Medical School, Budapest, Hungary

› Author Affiliations

Abstract

Summary

A family with a high incidence of spontaneous thromboembolism has been investigated and those members affected were found to have significantly depressed levels of plasma and serum heparin cofactor activity; i.e., antithrombin III and anti-Xa activity. Further studies revealed that despite a marked diminution of antithrombin III activity in these patients measurement of antithrombin III by immunological techniques showed the levels to be normal. It is concluded that this anomaly represents a defect in the synthesis of the antithrombin III molecule. The abnormality appeared to be inherited but the mode of inheritance could not be determined with the available data.

Full Text

References

References
1 Abildgaard U. 1968; Highly purified antithrombin III with heparin cofactor activity prepared by disc-electrophoresis. Scandinavian Journal of Clinical Laboratory Investigation 21: 89.
2 Abildgaard U. 1973 Personal communication.
3 Abildgaard U, Gbavem K, Godal H. 1970; Assay of progressive antithrombin in plasma. Thrombosis et Diathesis Haemorrhagica 24: 224.
4 Biggs R, Denson K. W. E. 1972. Natural and pathological inhibitors of blood coagulation. In: Biggs R. (ed.), Human Blood Coagulation, Haemostasis and Thrombosis. Blackwell magazine Publications; Oxford: 137.
5 Biggs R, Douglas A. S. 1953; The thromboplastin generation test. Journal of Clinical Pathology 06: 23.
6 Borchgrevink C. F, Pool J. G, Stormorken H. 1960; A new assay for factor V (proaccelerin-accelerin) using Russel’s viper venom. Journal of Laboratory and Clinical Medicine 55: 625.
7 Clauss A. 1957; Gerinnungsphysiologische Schnellmethode zur Bestimmung des Fibrinogen. Acta haematologica 17: 237.
8 Conrad J, Durand G, Feger J, Samama M. 1973. Acquired abnormal antithrombin III in 1-asparaginase treated patients. In: IVth International Congress on Thrombosis and Haemostasis. Abstracts; Vienna: 228.
9 Egeberg O. 1965; Inherited antithrombin deficiency causing thrombophilia. Thrombosis and Diathesis Haemorrhagica 13: 516.
10 Esnoue M. P, Lloyd P. H, Jesty J. 1973; A method for the simultaneous isolation of factor X and prothrombin from bovine plasma. Biochemical Journal 131: 781.
11 Feissly R, Ludin H. 1949; Microscopie par contrastes de phase. Revue d’hématologie 04: 481.
12 Gerendâs M. 1960; Die Thrombininaktivierung als Enzym-prozeß. Thrombosis et Diathesis Haemorrhagica 04: 56.
13 Hougie C. 1962; A simple assay method for factor X (Stuart-Prover factor). Proceedings of Society of Experimental Biology 109: 754.
14 Ivy A. C, Shapiro P. R, Melnick P. 1935; The bleeding tendency in jaundice. Surgery, Gynaecology and Obstetrics 60: 781.
15 Jesty J, Esnoue M. P. 1973; The preparation of activated factor X and its action on prothrombin. Biochemical Journal 131: 791.
16 von Kaulla K. X, Schultz R. L. 1958; Methods for the evaluation of human fibrinolysis. American Journal of Clinical Pathology 29: 104.
17 Koller F, Loeliger A, Duckert F. 1951; Experiments on a new clotting factor (factor VII). Acta haematologica 06: 1.
18 Langdell R. D, Wagner R. H, Brinkhous K. M. 1953; Effect of antihaemophilic factor on one-stage clotting tests. Journal of Laboratory and Clinical Medicine 41: 637.
19 Lee R. J, White P. D. 1913; A clinical study of the coagulation time of blood. American Journal of Medical Sciences 145: 495.
20 Manoini G, Carbonara A. O, Heremans J. F. 1965; Immunological quantitation of antigens by single immunodiffusion. International Journal of Immunochemistry 02: 235.
21 Nossel H. L, Niemetz J, Mibashan R. S, Schulze W. G. 1966; The measurement of factor XI (Plasma thromboplastin antecedent). Diagnosis and therapy of the congenital deficiency state. British Journal of Haematology 12: 133.
22 Palos A. L, Sas G, Csurgay A. 1969; Reaction kinetics of thrombin activity in decalcified plasma and blood. Thrombosis et Diathesis Haemorrhagica 21: 580.
23 Pitney W. R, Dacie J. V. 1953; A simple method of studying the generation of thrombin in recalcified plasma. Application in the investigation of haemophilia. Journal of Clinical Pathology 06: 9.
24 Proctor R. R, Rapaport S. I. 1961; The partial thromboplastin time with kaolin. American Journal of Clinical Pathology 36: 212.
25 Quick A. J. 1936; On the action of heparin and its relation to thromboplastin. American Journal of Physiology 115: 317.
26 Rinderknecht H, Geokas M. C. 1972; Role for a₂Macroglobulin in Haemostatic Balance. Nature New Biology 239: 116.
27 Sas G, Csurgay A, Pâlos L. A. 1966; A thrombin-hatâs reakciokinetikâja decalcinâlt plasmâban. Haematologia Hungarica 06: 1.
28 Sas G, Jâkö J, Läszlö C, Petö I. 1970; Inactivation of intrinsic prothrombin activator in serum. Haematologia 04: 391.
29 Sas G, Jakö J, Pâlos LÄ. 1968; A simple and fast method of plasminogen determination. Haematologia 02: 51.
30 Sigg P. E. 1966; The monoiodoacetate (MIA) tolerance test-Anew quantitative method for the fibrin stabilizing factor (factor XIII) assay. Thrombosis et Diathesis Haemorrhagica 15: 238.
31 Van der Meer J, Stoepman-Van ADalen, Jansen J. M. S. 1973. Antithrombin III deficiency in a Dutch family. In: IVtli International Congress on Thrombosis and Haemostasis. Abstracts; Vienna: 226.
32 Yin E. T, Wessler S. 1968; Bovine thrombin and activated factor X. Separation and purification. Journal of Biological Chemistry 243: 112.
33 Yin E. T, Wessler S, Stoll P. J. 1971; Identity of plasma-activated factor X inhibitor with antithrombin III and heparin cofactor. Journal of Biological Chemistry 246: 3712.