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, Inhaltsverzeichnis

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

› Institutsangaben

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.

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Referenzen

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.