Kombinierter AHG- und PTA-Mangel

Zusammenfassung

Es wird über die Kombination eines Faktor-VIII- und Faktor-XI-Mangels bei einem Patienten mit schwerer Blutungsneigung berichtet. Die Schwierigkeiten der Differentialdiagnose werden aufgezeigt und ähnliche Fälle in der Literatur diskutiert.

• Literatur

• 1 Patek A. J, Taylor F. H. L. Hemophilia II. Some properties of a substance obtained from normal human plasma effective in accelerating the coagulation of hemophilic blood. J. clin. Invest. 16: 113 1937;
• 2 Patek A. J, Stetson R. P. Hemophilia I. The abnormal coagulation of the blood and its relation to the blood platelets. J. clin. Invest. 15: 531 1936;
• 3 Pohle H, Taylor F. H. L. The coagulation defect in hemophilia. The effect in hemophilia of intramuscular administration of a globulin substance derived from normal human plasma. J. clin. Invest. 16: 741 1937;
• 4 Aggeler P. M, White S. G, Glendening M. B, Page E. W, Leake T. B, Bates U. G. Plasma thromboplastin component (PTC) deficiency. A new disease resembling haemophilia. Proc. Soc. exp. Biol. 79: 692 1952;
• 5 Biggs R, Douglas A. S, MacFarlane R. G, Dacie J. V, Pitney W. R, Merskey C, O’Brien J. R. Christmas disease, a condition previously mistaken for haemophilia. Brit. med. J. II: 378 1952;
• 6 Rosenthal R. L, Dreskin O. H, Rosenthal N. New hemophilia-like disease caused by deficiency of a third plasma thromboplastin factor. Proc. Soc. exp. Biol. 82: 171 1953;
• 7 Rosenthal R. L, Dreskin O. H, Rosenthal N. PTA-deficiency: clinical, coagulation, therapeutic and hereditary aspects of a new hemophilia-like disease. Blood 10: 120 1955;
• 8 Duckert F, Fliickiger P, Koller F. Le rôle du facteur X dans la formation de la thromboplastine sanguine. Rev. Hemat. 09: 489 1954;
• 9 Ratnoff D. E, Colopy J. E. A familial hemorrhagic trait associated with deficiency of a clot-promoting fraction of plasma. Journ. clin. Invest. 34: 602 1955;
• 10 Biggs R, Douglas A. S. The thromboplastin generation test. J. clin. Path. 06: 23 1953;
• 11 Biggs R, Douglas A. S, Mac Farlane R. G. The formation of thromboplastin in human blood. J. Physiol. 119: 89 1953;
• 12 Mammen E, Gross R. Blutplättchen und gerinnungsaktive Plasmaproteine. Blut. 08: 171 1962;
• 13 Scardigli G, Guidi G. Severe coagulation anomalies in a family of haemophiliacs. Acta haemat. 16: 338 1956;
• 14 Perry S, Opfell R, Baker M. Combined deficiencies of PTA and AHG with vascular fragility. Blood 16: 1184 1960;
• 15 Brinkhous K. M, Graham T. B. Blood. 09: 254 1954;
• 16 Schmutzler R. Differenzierung der hämophilen Syndrome. Medizinische 1957; 1889.
• 17 Josephson A. M, Lisker R. Demonstration of a circulating anticoagulans in plasma thromboplastin antecedent deficiency. J. clin. Invest. 37: 148 1958;
• 18 Jürgens J, Beller F. K. Klinische Methoden der Blutgerinnungsanalyse. Georg Thieme Verlag; Stuttgart: 1959
• 19 Frick P. G. The relative incidence of anti-hemophilic globulin (AHG), plasma thromboplastin component (PTC), and plasma thromboplastin antecedent (PTA) deficiency: A study of fifty-five cases. J. Lab. clin. Med. 43: 860 1954;
• 20 Remde W. Gerinnungsbefunde bei Konduktorinnen der Hämophilie. Med. Mschr. 16: 314 1962;
• 21 Nilsson I. M, Blombäck M, Thilén A, Francken I. Carriers in haemophilia A. Acta med. scand. 165: 357 1959;
• 22 Hill J. M, Speer R. J. Combined hemophilia and P.T.C. deficiency. Blood 10: 4 1955;
• 23 Verstraete M, Vandenbroucke J. Combined antihaemophilic globulin and Christmas factor deficiency in haemophilia. Lancet. 869. 1955
• 24 Eliakim M. Antihaemophilic globulin and plasma thromboplastin component deficiencies associated with a qualitative platelet disturbance. Acta haemat. 28: 61 1962;
• 25 Bachmann F. Vasculäre Hämophilie und Thrombopathie “von Willebrand-Jürgens”. Schweiz, med. Wschr. 89: 1036 1959;
• 26 Jones J. H, Rizza C. R, Hardisty R. M, Dormandy K. M, Macpherson J. C. Combined deficiency of factor V and factor VIII. Brit. J. Haemat. 08: 120 1962;