A New Dysfibrinogenemia: Fibrinogen Oslo IV

Summary

A family with dysfibrinogenemia is described. The abnormal fibrinogen occurred in three successive generations indicating a dominant hereditary pattern. Thrombin and reptilase times were about twice the normal value. This was shown to be caused by a polymerization defect, fibrinopeptide release being normal. Platelet aggregation was undisturbed, indicating normal platelet-fibrinogen binding. The bleeding time was normal and there was no bleeding tendency. However, an obscure recurrent pulmonary ailment may, or may not, be related to the dysfibrinogenemia. The abnormal fibrinogen was tentatively termed Oslo IV.

Keywords

Dysfibrinogenemia - Polymerization defect - Inheritable

• References

• 1 Higgins DL, Penner JA, Shafer JA. Fibrinogen Petoskey: Identification of a new dysfibrinogen characterized by altered release of fibrinopeptide A. Thromb Res 1981; 23: 491-501
• 2 Egeberg O. Inherited fibrinogen abnormality causing thrombophilia. Thrombos Diathes Haemorrh 1967; 17: 176-187
• 3 Godal HC, Brosstad F, Kierulf P. Three new cases of an inborn qualitative fibrinogen defect. (Fibrinogen Oslo II). Scand J Haematol 1978; 20: 57-62
• 4 Olaisen B, Teisberg P, Gedde-Dahl T. Fibrinogen gamma-chain locus is on chromosome 4 in man. Hum Genet 1982; 61: 24-26
• 5 Hjort PF, Stormorken H. A study of in vitro and in vivo effects of a synthetic heparin-like anticoagulant: Dextran sulphate. Scand J Clin Lab Invest 1957; Suppl. 29: 13-14
• 6 Owren PA. The interrelations between Normotest and Thrombotest. Farmakoterapi 1969; 15: 1-13
• 7 Janson T, Grimmer Ø. Test conditions and sensitivity of the partial thromboplastin time (APTT) test “Cephotest”. Farmakoterapi 1969; 32: 36-46
• 8 Clauss A. Gerinnungsphysiologischc Schnellmethode zur Bestimmung des Fibrinogens. Acta Haematol 1957; 17: 237-246
• 9 Jacobsson K. Studies on the determination of fibrinogen in human blood plasma. Scand J Clin Lab Invest 1955; 7 (Suppl. 14) 1-54
• 10 Godal HC, Abildgaard U. Gelation of soluble fibrin in plasma by ethanol. Scand J Haematol 1966; 3: 342-350
• 11 Born GV R. Aggregation of blood platelets by adenosine diphosphate and its reversal. Nature 1962; 194: 927-929
• 12 Jakobsen E, Kierulf P. A modified beta-alanine precipitation procedure to prepare fibrinogen free of antithrombin III and plasminogen. Thromb Res 1973; 3: 145-159
• 13 Blombäck B, Yamashina I. On the N-terminal amino acids in fibrinogen and fibrin. Arch F Kemi 1958; 12: 299-308
• 14 Anderson NG, Anderson NL. Analytical techniques for cell fractionations XXI: Two-dimensional analysis of serum and tissue proteins. Multiple isoelectric focusing. Ann Biochem 1978; 85: 331-340
• 15 Brosstad F, Kierulf P, Gravem K, Godal HC. Purification and insolubilization of reptilase for the preparation of human des-AA fibrin monomers in urea. Thromb Res 1978; 13: 715-723
• 16 Nossel HL, Yonger RL, Willner GD, Procupesz T, Canfield RE, Butler Jr VP. Radioimmunoassay of human fibrinopeptide A. Proc. Natl Acad Sci (USA) 1971; 68: 2350-2353
• 17 Brosstad F, Kierulf P, Godal HC. The fibrin-solubilizing effect of fibrinogen as studied by light scattering. Thromb Res 1979; 14: 705-712
• 18 Popinu EA, Drew RM. The action of an enzyme from Clostridium perfringens on orosomucoid. J Biol Chem 1957; 228: 673-683