Hamostaseologie 1985; 05(01): 17-31
DOI: 10.1055/s-0038-1655096
Originalarbeiten
Schattauer GmbH

Angeborene Thrombozytopathien

H. K. Breddin
1   Aus dem Zentrum der Inneren Medizin der J.-W.-Goethe-Universität Frankfurt/M., Abteilung für Angiologie
› Author Affiliations
Further Information

Publication History

Publication Date:
25 July 2018 (online)

 
  • LITERATUR

  • 1 Alagille D, Fosso F, Blin J. L. La dystrophie thrombocytaire hemorrhagipare, discussion nosologique. Nouv. Rev. Fr. Hematol 04: 755-790 1964;
  • 2 Aldrich R. A, Steinberg A. G, Campbell D. C. Pedigree demonstrating a sex linked recessive condition characterized by draining ears, exzemoid dermatitis and bloody diarrhea. Pediatrics 13: 133-138 1954;
  • 3 August C. S, Hathaway W. E, Githens J. H, Pearlman D, McIntosh K, Favara B. Improved platelet function following bone marrow transplantation in an infant with the Wiskott-Aldrich syndrome. J. Pediatr 82: 58-64 1973;
  • 4 Awidi A. S. Increased incidence of Glanzmann’s thrombasthenia in Jordan as compared with Scandinavia. Scand. J. Haematol 30: 218-222 1983;
  • 5 Bach F. H. Bone marrow transplantation in a patient with the Wiskott-Aldrich syndrome. Lancet II: 1364-1366 1968;
  • 6 Baldini M. G. Platelet defect in Wiskott-Aldrich syndrome. New Engl. J. Med 281: 107 1969;
  • 7 Barke H, Neset G. Major surgery in a patient with thrombasthenia and rapid removal of normal platelets. Scand. J. Haematol 06: 338-342 1969;
  • 8 Beck E. A, Baumgartner H. R. Zur Frage der Thrombopathie bei May-Heg-glin-Anomalie. Schweiz. Med. Wschr 100: 330-333 1970;
  • 9 Bell T. G, Camacho Z, Meyers K, Padgett G. Platelet storage disease in Chediak-Higashi syndrome in animals. Fed. Proc 34: 861 1975;
  • 10 Bell T. G, Meyers K. M, Prieur D. J, Fauci A. S, Wolff S. M, Padgett G. A. Decreased nukleotide and serotonin storage associated with defective function in Chediak-Higashi syndrome, cattle and human platelets. Blood 48: 175-184 1976;
  • 11 Bernard J, Soulier J. Sur une nouvelle variété de dystrophie thrombocytaire hémorragipare congenitale. Sem. Hôp. Paris 24: 3217-3233 1948;
  • 12 Bernard J, Caen J, Moroteaw P. La dystrophie thrombocytaire hémorrhagipare congenitale. Rev. Hematol 12: 222-249 1957;
  • 13 Dechavanne J. MBernheim, Bryon P. A, Lagarde M, Colon S, Peret N, Traeger J. Thrombocytopenia, macrothrombocytopathia, nephritis and deafness. Amer. J. Med 61: 145-150 1976;
  • 14 Bithell T. C, Parekh S. J, Strong R. R. Platelet function studies in the Bernard-Soulier syndrome. Ann. N.Y. Acad. Sei 201: 145-160 1972;
  • 15 Blum K. U. Thrombasthenie Glanzmann, ein biochemisch definiertes Krankheitsbild. Med. Klin 62: 1189-1190 1967;
  • 16 Blum R. S, Wolff S. M. The Chediak-Higashi syndrome. Studies in four patients and a review of the literature. Medicine (Baltimore) 51: 247-280 1972;
  • 17 Boisseau M. R, LeMenn R, Bentegeat J. Megacaryocytes et plaquettes dans les thrombopathies constitutionnelles. Nouv. Rev. Fr. Hematol 16: 427-436 1976;
  • 18 Bomalaski J. S, Green D, Carone F. Oculocutaneous albinism, platelet storage pool disease and progressive lupus nephritis. Arch. Intern. Med 143: 809-811 1983;
  • 19 Borchgrevink C. F. Platelet adhesion in vivo in patients with bleeding disorders. Acta Med. Scand 170: 231-243 1961;
  • 20 Boxer G. J, Holmsen H, Robbin L, Bang N. U, Boxer L. A, Bachner R. L. Abnormal platelet function in Chediak-Higashi syndrome. Brit. J. Hämatol 35: 521-533 1977;
  • 21 Braunsteiner H. Thrombopathie und Thrombasthenie. Wiener Zschr. Inn. Med 36: 421-435 1955;
  • 22 Breddin H. K. Die Thrombozytenfunktion bei hämorrhagischen Diathesen, Thrombosen und Gefäßkrankheiten. Thrombos. Diathes. haemorrh. Suppl.27. Schattauer, Stuttgart: 1968
  • 23 Brown C. H, Weisberg R. J, Natelson E. A, Alfrey C. P. Glanzmann’s thrombasthenia: assessment of the response to platelet transfusions. Transfusion 15: 124-131 1975;
  • 24 Buchanan J. G, Pearce L, Wetherley-Mein G. The May-Hegglin anomaly; a family report and chromosome study. Brit. J. Haemat 10: 508-512 1964;
  • 25 Buchanan G. R, Handin R. I. Platelet function in the Chediak-Higashi Syndro. Blood 47: 941-948 1976;
  • 26 Budde U, Schänder K, Siedeck M, Steinbach H, Etzel F, Schwinger E. Zur Klinik des May-Hegglin-Syndroms. In: Breddin H. K. (ed.): Prostaglandine und Plättchenfunktion. Methoden zur Erfas-sung einer gesteigerten Plättchenfunktion, Chromogene Substrate im Gerinnungslaboratorium. Schattauer, Stuttgart; New York: 1978: 377-382.
  • 27 Caen J. P. Glanzmann’s thrombasthenia. Clin. Haematol 01: 383-392 1972;
  • 28 Caen J. P, Castaldi P. A, Leclerc J. C, Inceman S, Larrieu M. J, Probst M, Bernard J. Congenital bleeding disorders with long bleeding time and normal plate count. I. Glanzmann’s thrombasthenia (report of 15 patients). Amer. J. Med 41: 4-26 1966;
  • 29 Caen J. P, Levy-Toledano S, Sultan Y, Bernard J. La dystrophie thrombocytaire hémorragipare (interaction des plaquettes et du facteur Willebrand. Nouv. Rev. Fr. Hematol 13: 595-602 1973;
  • 30 Caen J. P, Nurden A. T, Jeanneau C, Michel H, Tobelem G, Levy-Toledano S, Sultan Y, Valensi F, Bernard J. Bernard-Soulier syndrome: a new glycoprotein abnormality. Its relationship with platelet adhesion to subendothelium and with the factor VIII von Willebrand protein. J. Lab. Clin. Med 87: 586-596 1976;
  • 31 Caen J. P, Cronberg S, Kubisz P. Platelets. Physiology and Pathology. Stratton, New York: 1977
  • 32 Cawley J. C, Hayhoe F. G. J. The inclusions of the May-Hegglin anomaly and Döhle-Bodies of infection: an ultrastructural comparison. Brit. J. Haemat 22: 491-496 1972;
  • 33 Chevalier J, Nurden A. T, Thiery J. M, Savarieux E, Caen J. P. Freeze fracture studies on the plasma membranes of normal human thrombasthénie, and Bernard-Soulier platelets. J. Lab. Clin. Med 94: 232-245 1979;
  • 34 Cieslar P, Hermansky F, Smetana K, Prokes J. Platelet functions and ultrastructure in the Hermansky-Pudlak syndrome. Folia Haematol. (Leipzig) 101: 553-561 1974;
  • 35 Coller B. S. Inhibition of von Willebrand factor-dependent platelet function by increased platelet cyclic AMP and its prevention by cytoskeleton-disrupting agents. Blood 57: 846-855 1981;
  • 36 Cooper M. D, Chare H. P, Low-man J. T, Krivitt W, Good R. A. Wiskott-Aldrich syndrome. An immunologic deficiency disease involving the afferent limb of immunity. Amer. J. Med 44: 499-513 1968;
  • 37 Corby D. G, Putnam C. W, Greene H. L. Impaired platelet function in glucose-6-phosphate deficiency. J. Pediat 85: 71-76 1974;
  • 38 Costae MSilva, Kitajima E. Giant platelets and thrombocytopenia: A bleeding disorder in siblings. Clinical, laboratory and electron microscopic aspects. J. Med 08: 81-94 1977;
  • 39 Costa J. L, Fauci A. S, Wolff S. M. A platelet abnormality in the Chediak-Higashi syndrome of man. Blood 48: 517-520 1976;
  • 40 Cronberg S, Nilsson I. M, Zetterquist E. Investigation of a family with members with both severe and mild degree of Thrombasthenia. Acta Pediat. Scand 56: 189-197 1967;
  • 41 Cronberg S, Nilsson I. M. Investigations in a family with thrombasthenia of moderately severe type with 16 affected members. Scand. J. Haemat 05: 17-25 1968;
  • 42 Cronberg S, Nilsson I. M. Investigation of patients with mild Thrombasthenia a haemorrhagic disorder with prolonged bleeding time probably due to a primary platelet defect. Acta med. Scand 183: 1-13 1968;
  • 43 Crowell Jr E. B, Eisner E. V. Familial association of thrombopathia and antihemophilic factor (AHF, Factor VIII) deficiency. Blood 40: 227-233 1972;
  • 44 Cullum C, Cooney D. P, Schrier S. L. Familial thrombocytopenic thrombocytopathy. Brit. J. Haemat 13: 147-159 1967;
  • 45 Davies B. H, Tuddenham E. G. D. Familial pulmonary fibrosis associated with oculocutaneous albinism and platelet function defect - a new syndrome. Quart. J. Med 45: 219-232 1976;
  • 46 Davis W. C, Douglas S. D. Defective granule formation and function in the Chediak-Higashi syndrome in man and animals. Semin. Hematol 09: 431-453 1972;
  • 47 Davis J. W, Wilson S. J. Platelet survival in the May-Hegglin anomaly. Brit. J. Haemat 12: 61-65 1966;
  • 48 Davis W. C, Spicer S. S, Greene W. B, Padgett G. A. Ultrastructure of cells in bone marrow and peripheral blood of normal mink and mink with the homologue of the Chediak-Higashi syndrome in man and animals. Amer. J. Pathol 63: 411-432 1971;
  • 49 Day H. F, Holmsen H. Platelet adenine nucleotides “storage pool deficiency” in thrombocytopenic absent radii syndrome. JAMA 221: 1053-1054 1972;
  • 50 Defreyn G, Machin S. J, Carreras L. O, Dauden M. V, Chamone D. A. F, Vermylen J. Familial bleeding tendency with partial platelet thromboxane synthetase deficiency: Reorientation of cyclic endoperoxyde metabolism. Brit. J. Haemat 49: 29-41 1981;
  • 51 Degos L, Dautigny A, Bronet J. C, Colombani M, Ardaillon N, Caen J. P, Colombani J. A molecular defect in thrombasthénie platelets. J. Clin. Invest 56: 236-240 1975;
  • 52 Degos L, Tobelem G, Lethielleux P, Levy-Toledano S, Caen J, Colombani J. Molecular defect in platelets from patients with Bernard-Soulier syndrome. Blood 50: 899-903 1977;
  • 53 Dixon R. H, Davis W. E, Benbow J. B, Kremer W. B. Spherical platelet syndrome: absent microtubules and a bleeding diathesis. Clin. Res 22: 388A 1974;
  • 54 Döhle V. Leukozyteneinschlüsse bei Scharlach. Zentralbl. Bakt 61: 63-68 1911;
  • 55 Donati M. B, De Gaetano G, Vermylen J. Evidence that bovine factor VIII, not bovine fibrinogen, aggregates human platelets. Thrombos. Res 02: 97-104 1973;
  • 56 Eckstein J. D, Filip D. J, Watts J. C. Hereditary thrombocytopenia, deafness and renal disease. Ann. Int. Med 82: 639-645 1975;
  • 57 Eknoyan G, Brown C. H. A biochemical basis for abnormal platelet function in renal failure: decreased adenosine diphosphate (ADP), adenosine triphosphatase (ATPase) and serotonin. Clin. Res 23: 361A 1975;
  • 58 Eliachar E, Manet L, Samama M, Tassy R, Giacimini T, Prost R. J, Doumenc J. A propos d’un cas de thrombasthenie de Glanzmann. Étude clinique et biologique. Ann. Pediat 42: 187-190 1966;
  • 59 Epstein C. J, Sahud M. A, Piel C. F, Goodman J. R, Bernfield M. R, Kushner J. H, Ablin A. R. Hereditary macrothrombocytopathia, nephritis and deafness. Amer. J. Med 52: 299-310 1972;
  • 60 Estes S. Platelet abnormalities in heritable disorders of connective tissue. Ann. N.Y. Acad. Sei 201: 445-450 1972;
  • 61 Estes J. W, Carey R. J, Desai R. G. Marfan’s syndrome. Hematological abnormalities in a family. Arch. Intern. Med 116: 889-893 1965;
  • 62 Evensen S. A, Solum N. O, Grottum K. A, Hovig J. Familial bleeding disorders with a moderate thrombocytopenia and giant blood platelets. Scand. J. Haematol 13: 203-214 1974;
  • 63 Fabris F, Casonato A, Randi M. L, Girolami A. Plasma and platelet beta-thromboglobulin levels in patients with May-Hegglin anomaly. Haemostasis 09: 126-130 1980;
  • 64 Firkin B. G, Howard M. A, Farmer S. J. Observations on the ultrastructure of platelets in Glanzmanns disease. Brit. J. Haemat 27: 527-531 1974;
  • 65 Fonio A, Schwendener J. Die Thrombozyten des menschlichen Blutes. Huber, Bern: 1942
  • 66 Frank E, Ulutin O. N, Karaca M. Die isolierten und assoziierten Athrombien. New Istanbul Contr. Clin. Sei 04: 62 1956;
  • 67 Garay S. M, Gardella J. E, Fazzini E. P, Goldring R. M. Hermansky-Pudlak- Syndrome. Pulmonary manifestations of a ceroid storage disorder. Amer. J. Med 66: 737-747 1979;
  • 68 George J. N, Reimann T. A, Moake J. L, Morgan R. K, Cimo LPh, Sears D. A. Bernard-Soulier disease: a study of four patients and their parents. Brit. J. Haemat 48: 459-467 1981;
  • 69 Gerrard J. M, Phillips D. R, Rao G. H. R, Plow E. F, Waltz D. A, Ross R, Harker L. A, White J. G. Biochemical studies of two patients with the gray platelet syndrome. Selective deficiency of platelet alpha granules J. Clin. Invest 66: 102-109 1980;
  • 70 Gerritsen S. M, Akkerman J. W. N, Nijmeyer B, Sixma J. J, Witztrop C. J, White J. The Hermansky-Pudlak syndrome, evidence for a lowered 5-hydroxytryptamine content in platelets of heterozygotes. Scand. J. Haemat 18: 249-250 1977;
  • 71 Gerritsen S. W, Akkerman G. W. N, Sixma J. J. Correction of the bleeding time in patients with storage pool deficiency by infusion of cryoprecipitate. Brit. J. Haemat 40: 153-160 1978;
  • 72 Ginsberg M. H, Forsyth J, Lightsey A, Chediak J, Plow E. F. Reduced surface expression and binding of fibronectin by thrombin-stimulated thrombasthénie platelets. J. Clin. Invest 71: 619-624 1983;
  • 73 Girolami A, Brunetti D, Fioretti D, Gravina E. Congenital thrombocytopathy (PF 3 defect) with prolonged bleeding time but normal platelet adhesiveness and aggregation. Acta Haematol. (Basel) 50: 116-123 1973;
  • 74 Girolami A, Randi M, Casanato A, Pasini L, Boccato C, Fabris F. A study of platelet function and morphology in a new family with May-Hegglin Anomaly. Folia Haematol. (Leipzig) 107: 256-268 1980;
  • 75 Glanzmann E. Hereditäre haemorrhagische Thrombasthenie. Ein Beitrag zur Pathologie der Blutplättchen. J. Kinderkrankh 88: 1-42 1918;
  • 76 Godwin H. A, Ginsburg A. D. May-Hegglin Anomaly: A defect in megakaryocyte fragmentation? Brit. J. Haematol 26: 117-128 1974;
  • 77 Goodman R. M, Levitzky J. M, Friedman J. A. The Ehlers-Danlos syndrome and multiple neurofibromatosis in a kindred of mixed derivation, which special emphasis on hemostasis in the Ehlers-Danlos syndrome. Amer. J. med 32: 976-983 1962;
  • 78 Graham J. B. A kindred with Glanz-mann’s thrombopathy. Thromb. Diath. Haemorrh. Suppl 26: 239 1967;
  • 79 Gross R, Gerok W, Löhr G. W, Vogell W, Waller H. D, Theopold W. Über die Natur der Thrombasthenie. Klin. Wschr 38: 193-206 1960;
  • 80 Grottum K. A, Hovig T, Holmsen H, Abrahamsen A. F, Gerenvic M, Seip M. Wiskott-Aldrich syndrome: Qualitative platelet defects and short platelet survival. Brit. J. Haemat 17: 373-388 1969;
  • 81 Grottum K. A, Hovig T, Holmsen H. Wiskott-Aldrich syndrome: Qualitative platelet defects and short platelet survival. Blood 34: 542 1969;
  • 82 Hagen I, Nurden A, Bjerrum O. J, Solum N. O. Immunochemical evidence for protein abnormalities in platelets from patients with Glanzmann’s thrombasthenia and Bernard-Soulier syndrome. Amer. J. Clin. Invest 65: 727-731 1980;
  • 83 Hamilton R. W, Shaikh B. S, Ottie J. N, Storck A. E, White J. G. Platelet function, ultrastructure and survival in the May-Hegglin anomaly. Amer. J. Clin. Path 74: 663-668 1980;
  • 84 Hardisty R. M, Hutton R. A. Bleeding tendency associated with “new” abnormality of platelet behaviour. Lancet I: 983-985 1967;
  • 85 Hardisty R. M, Mills D. C. B, Ketsa-Ard K. The platelet defect associated with albinism. Brit. J. Haemat 23: 679-692 1972;
  • 86 Hathaway W. E, Solomons C. C, Ott J. E. Platelet function and pyrophosphates in osteogenesis imperfecta. Blood 39: 500-509 1972;
  • 87 Hegglin R. Simultaneous constitutional changes in neutrophils and platelets. Helv. med. Acta 12: 439-440 1945;
  • 88 Hegglin R, Gross R, Loehr G. W. Anomalie May-Hegglin. Schweiz. Med. Wschr 94: 1357-1364 1964;
  • 89 Hermansky R, Pudlak P. Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow. Report of two cases with histochemical studies. Blood 14: 162-169 1959;
  • 90 Higashi O, Konno KKikuchi. A case of thrombasthenia with a study of platelet aggregation by hydrogen peroxide (H202 . Tohoku J. Exp. Med 106: 399-409 1972;
  • 91 Holahan J. R, White G. C. Heterogeneity of membrane surface proteins in Glanzmanns thrombasthenia. Blood 57: 174-181 1981;
  • 92 Holmsen H, Weiss H. J. Hereditary defect in the platelet release reaction caused by a deficiency in the storage pool of platelet adenine nucleotides. Brit. J. Haemat 19: 643-649 1970;
  • 93 Holmsen H, Weiss H. J. Further evidence for a deficient storage pool of adenine nucleotides in platelets from some patients with thrombocytopathia - “Storage pool disease”. Blood 39: 197-209 1972;
  • 94 Horellou M. H, Lecompte T, Lecru-bier C, Fouque F, Chignard M, Conard J, Vargaftig B. B, Dray F, Samama M. Familial and constitutional bleeding disorder due to platelet cyclooxygenase deficiency. Amer. J. Hematol 14: 1-9 1983;
  • 95 Howard M. A, Hutton R. A, Hardisty R. M. Hereditary giant platelet syndrome: a disorder of a new aspect of platelet function. Brit. J. Med 02: 586-588 1973;
  • 96 Howard L, Shulman S, Sadanandan S, Karpatkin S. Crossed immunoelectrophoresis of human platelet membranes. J. Biol. Chem 257: 8331-8336 1982;
  • 97 Inceman S, Ünügür A, Aran M. Essential athrombia. Thromb. Diath. Haemorrh 08: 502 1962;
  • 98 Inceman S, Tangün Y. Clinical and laboratory findings in six cases of Glanzmann’s thrombasthenia. Turk Tip Cemiy Mecm 36: 235-243 1970;
  • 99 Inceman S, Tangün Y. Essential athrombia, study of a new case. Thrombos. Diathes. haemorrh. (Stuttg) 33: 278-285 1975;
  • 100 Ingerman C. M, Smith J. B, Shapiro S, Sedar A, Silver M. J. Hereditary abnormality of platelet aggregation attributable to nucleotide storage pool deficiency. Blood 52: 332-344 1978;
  • 101 Jacobs P, Hougaard M, Bracher M, Hughes J. The Bernard-Soulier syndrome: Hereditary giant platelet disease. S. Afr. Med. J 49: 1973-1974 1975;
  • 102 Jamieson G. A, Okumura T. Reduced thrombin binding and aggregation in Bernard Soulier platelets. J. Clin. Invest 61: 861-864 1978;
  • 103 Jamieson G. A, Okumura T, Fishback B, Johnson M. M, Egan J. J, Weiss H. J. Platelet membrane glycoproteins in thrombasthenia, Bernard-Soulier syndrome, and storage pool disease. J. Lab. Clin. Med 93: 652-660 1979;
  • 104 Jelenska M, Kopec M, Breddin K. On the reaction of collagen and fibrin induced by normal, defective and modified platelets. Haemostasis. in press, 1984
  • 105 Jenis M. E-H, Takeuchi A, Dillon D. E, Ruymann M. F. B, Rivikin S. The May-Hegglin anomaly: Ultrastructure of the granulocytic inclusion. Amer. J. Clin. Path 55: 187-196 1971;
  • 106 Jenkins C. S. P, Ali-Briggs E. F, Clemetson K. J. Antibodies against platelet membrane glycoproteins. II. Influence on ADP and Collagen-induced platelet aggregation, crossed immunoelectrophoresis studies and relevance to Glanzmann’s thrombasthenia. Brit. J. Haemat 49: 439-447 1981;
  • 107 Jordan S. W, Larsen W. E. Ultrastructural studies of the May-Hegglin anomaly. Blood 25: 921-932 1965;
  • 108 Kanska B, Niewiarowski S, Ostrowski L, Poplowski A, Prokopowicz J, thrombopathia M. a. krothrombocytic. Clinical, coagulation and hereditary aspects. Thrombos. Diathes. haemorrh 10: 88-100 1961;
  • 109 Kapoor N, Kirkpatrick D, Blaese R. M, Oleske G, Hilgartner M. H, Chaganti R. S. K, Good R. A, O’Reilly R. J. Reconstitution of normal megakaryocytopoesis and immunologic functions in Wiskott-Aldrich syndrome by marrow transplantation following myeloablation and immunosuppression with busulfan and cyclophosphamide. Blood 57: 692-696 1981;
  • 110 Karaca M, Nilsson L. M. Diagnosis of mild thrombasthenia. Lancet II: 1084-1085 1970;
  • 111 Karaca M, Nilsson I. M. PTA (factor XI) deficiency and prolonged bleeding time. Acta Med. Scand 192: 171-176 1972;
  • 112 Karpatkin S, Weiss H. J. Deficiency of glutathione peroxidase associated with high levels of reduced glutathione in Glanzmanns thrombasthenia. New Engl. J. Med 287: 1062-1066 1972;
  • 113 Kashiwagi H, Riddle J. M, Abraham J. P, Frame B. Functional and ultrastructural abnormalities in Ehlers-Danlos-Syndrome. Ann. Intern. Med 63: 249-254 1965;
  • 114 Khanduri U, Pulimood R, Sudarsanam A, Carman R, Jadhav M, Pereira S. Glanzmann’s thrombasthenia. A review and report of 42 cases from South India. Thrombos. Haemostas 46: 717-721 1981;
  • 115 Khanduri U, Pulimood R, Sudarsanam A, Carman R. H, Jadhav M, Pereira S. Essential Athrombia. A report on 4 cases from South India. Thrombos. Haemostas 46: 722-724 1981;
  • 116 Kirchmaier K, Breddin H. K. A new thrombocytopathy with giant platelets: Thrombocytopathy Regensburg (in Vorbereitung.
  • 117 Kunicki T. J, Aster R. H. Deletion of the platelet specific alloantigen PI A1 from platelets in Glanzmann’s thrombasthenia. J. Clin. Invest 61: 1225-1231 1978;
  • 118 Kuramoto A, Steiner M, Baldini M. A. Lack of platelet response to stimulation in the Wiskott-Aldrich syndrome. New Engl. J. Med 282: 479 1970;
  • 119 Kurstjens R, Bolt C, Vossen M, Haanen C. Familial thrombopathic thrombocytopenia. Brit. J. Haemat 15: 305-317 1968;
  • 120 Lagarde M, Bryon P. A, Vargaftig B. B, Dechavanne M. Impairment of platelet thromboxane A2 generation and of the platelet release reaction in two patients with congenital deficiency of platelet cyclooxygenase. Brit. J. Haematol 38: 25-26 1978;
  • 121 Lages B, Malmsten C, Weiss H. J, Samuelsson B. Impaired platelet response to thromboxane-A2 and defective calcium mobilization in a patient with a bleeding disorder. Blood 57: 545-552 1981;
  • 122 Lechner K, Moser K, Pietschmann H, Stockinger L, Vinazzer H. Zur Ultrastruktur der Thrombozyten bei der Thrombasthenie. Wien. Ztschr. Inn. Med 48: 369-376 1967;
  • 123 Lechner K, Breddin H. K, Moser K, Stockinger L, Wenzel E. May-Hegglinsche Anomalie. Beschreibung einer neuen Familie und Untersuchungen zur Funktion, Biochemie und Ultrastruktur der Thrombozyten. Acta haemat 42: 303-320 1962;
  • 124 Ledermair V. O, Vinazzer H. Zur Therapie schwerster Menorrhagien bei Morbus Glanzmann-Naegeli. Gynaecol 164: 109-113 1967;
  • 125 Lee H, Nurden A. T, Thomaidis A, Caen J. P. Relationship between fibrinogen binding and the platelet glycoprotein deficiencies in Glanzmann’s thrombasthenia type I and type II. Brit. J. Haemat 48: 47-57 1981;
  • 126 Leeuwen van E. F, von A. E. G, Borne d. e. m, von Riesz L. E, Nijenhuis L. E, Engelfriet C. P. Absence of plateletspecific alloantigens in Glanzmann’s thrombasthenia. Blood 57: 49-54 1981;
  • 127 Levy J. M, Stoll C, Gardea A, Bigel P. Clinique et genetique dans la thrombasthenie de Glanzmann. Nouv. Rev. Fr. Hematol 16: 399-406 1976;
  • 128 Levy-Toledano S, Tobelem G, Legrand C, Bredoux R, Degos L, Nurden A, Caen J. P. Acquired IgG antibody occuring in a thrombasthenie patient: Its effect of human platelet function. Blood 51: 1065-1071 1978;
  • 129 Logan L. G, Rapaport S. J, Maher I. Albinism and abnormal platelet function. New Engl. J. Med 284: 1340-1345 1971;
  • 130 Lum L. G, Tubergen D. G, Corash L, Blaese R. M. Splenectomy in the management of the thrombocytopenia of the Wiskott-Aldrich Syndrome. New Engl. J. Med. 892-896.
  • 131 Lusher J. M, Barnhart M. I, Pullen J, Warrier A. I. Platelet function, ultrastructure and management in Glanzmann’s thrombasthenia. Thromb. Haemostas 38: 263 1977;
  • 132 Lusher J. M, Schneider J, Mizukami I, Evans R. K. The May-Hegglin anomaly: Platelet function, ultrastructure and chromosome studies. Blood 32: 950-961 1968;
  • 133 Mackie I, Bull H, Brozovic M, Hussein M. Hermansky-Pudlak syndrome and factor VIII ristocetin cofactor. Brit. J. Haemat 41: 449-452 1979;
  • 134 Maldonado G. E, Gilchrist G. S, Brigden L. B, Bowie E. G. Ultrastructure of platelets in Bernard-Soulier syndrome. Mayo Clin. Proc 50: 402-406 1975;
  • 135 Malmsten C, Hamberg M, Svensson J, Samuelson B. Physiological role of an endoperoxide in human platelets. Hemostatic defect due to platelet cyclooxygenase deficiency. Proc. Natl. Acad. Sei. USA 72: 1446-1450 1975;
  • 136 Mancini A. F. Glanzmann’s disease or hemorrhagic hereditary thrombasthenia. Minerva Pediatr 23: 1247-1258 1971;
  • 137 Mancini A. F, Rosito P. Congenital thrombocytopathy, nosological classification. Minerva Pediatr 27: 616-622 1975;
  • 138 Marcus A. J, Zucker-Franklin D. Enzyme and coagulation activity of subcellular platelet fractions. J. Clin. Invest 43: 1241-1249 1964;
  • 139 Marx R, Jean G. Studien zur Pathogenese der Thrombasthenie Glanzmann-Naegeli. Klin. Wschr 40: 942-953 1962;
  • 140 Maurer H. M, Buckingham S, Spielvogel A, McGilvray E, Wolff J. A. Prolonged bleeding time, abnormal binding of platelet serotonin (5-HT), absent dark body, defective platelet factor 3 activation, bone marrow inclusions and chromosome breaks in albinism. Proc. XII Congr. Internat. Soc. Hematol. New York: 1968: 198.
  • 141 May R. Leukozyteneinschlüsse. Dtsch. Arch. Klin. Med 96: 1-6 1909;
  • 142 Mills D. C. B, Hardisty R. The nature of platelet defect in albinos with bleeding tendency. Proc. XIII Congr. Int. Soc. Hematol. Munich. 1970: 31.
  • 143 Moake J. L, Olson J. D, Troll J. H, Tang S. S, Funicella Peterson D. M. Binding of radiojodinated human von Willebrand factor to Bernard-Soulier, thrombasthénie and von Willebrands disease platelets. Thrombos. Res 19: 21-27 1980;
  • 144 Montgomery R. R, Kunicki JTh, Taves C. Diagnosis of Bernard-Soulier Syndrome and Glanzmann’s thrombasthenia with a monoclonal assay on whole blood. J. Clin. Invest 71: 385-389 1983;
  • 145 Moser K, Lechner K, Vinazzer H. A hitherto not described enzyme defect in thombasthenia: Glutathionreductase deficiency. Thromb. Diath. Haemorrh 19: 46-52 1968;
  • 146 Naegeli O. Blutkrankheiten und Blutdiagnostik. Springer, Berlin: 1931
  • 147 Najean Y, Schaison G, Binet J. L, Bernard J, Dresch C. Le syndrome de May-Hegglin. Presse médicale 22: 1649-1652 1966;
  • 148 Nurden A. T, Dupuis D, Pidard D, Kunicki T. J. Membrane glycoprotein defects in congenital platelet disorders. Biochemical Society Transactions, 591. Meeting, Newcastle upon Tyne 1979; 698-700.
  • 149 Nurden A. T, Caen J. P. Abnormal glycoprotein pattern in three cases of Glanzmann’s thrombastenia. Brit. J. Haemat 28: 255 1974;
  • 150 Nurden A. T, Caen J. P. Role of surface glycoproteins in human platelet function. Thromb. Haemostas 35: 139-150 1976;
  • 151 Nurden A. T, Caen J. P. Further studies on the glycoprotein of normal human, Bernard-Soulier and thrombasthenie platelets. Thrombos. Haemostas 38: 389 1977;
  • 152 Nurden A. T, Dupuis D, Kunicki T. J, Caen J. P. Analysis of the glycoprotein and protein composition of Bernard-Soulier platelets by single and two-dimensional sodium dodecyl sulfate polyacryl-amidegel electrophoresis. J. Clin. Invest 67: 1431-1440 1981;
  • 153 Nurden A. T, Kunicki JTh, Dupuis D, Soria C, Caen J. P. Specific protein and glycoprotein deficiencies in platelets isola from two patients with the gray platelet syndrome. Blood 59: 709-718 1982;
  • 154 Ohler W. G. A. Intrathrombozytärer Pyruvatkinase-und Glyzerinaldehyd-3- phosphat-dehydrogenasemangel bei Thrombasthenie. Therapiewoche 20: 293-295 1970;
  • 155 Olson J. D, Moake J. L, Collins M. F, Michael B. S. Adhesion of human platelets to purified solid-phase von Willebrand factor: studies of normal and Bernard-Soulier platelets. Thrombos. Res 32: 115-122 1983;
  • 156 Onel D, Ulutin S. B, Ulutin O. N. Platelet defect in a case of Ehlers-Danlos-syndrome. Acta Haemat 50: 238-244 1973;
  • 157 Oski F. A, Naiman J. K. L, Allen D. M, Diamond L. K. Leucocytic inclusions-Döhle bodies-associated with platelet abnormality (the May-Hegglin anomaly), report of a family and review of the literature. Blood 20: 657-667 1962;
  • 158 Papayannis A. G, Israels M. C. G. Glanzmann’s disease and trait. Lancet II: 44 1970;
  • 159 Papayannis A. G, Watson-Williams E. J, Israels M. C. G. Platelet functional abnormalities: A report of two familial defects in interaction between collagen and platelets and ADP release. Blood 38: 745-758 1971;
  • 160 Pareti F. I, Capitanio A, Manucci P. M. Acquired storage pool disease in platelets during disseminated intravascular coagulation. Blood 48: 511-515 1976;
  • 161 Pareti F. J, Manucci P. M, D’Angelo A, Smith J. B, Santelin L, Galli G. Congenital deficiency of thromboxane and prostacyclin. Lancet I: 898-901 1980;
  • 162 Parkman R, Rapaport J, Geha R, Belli J, Cassady R, Levey R, Nathan D. A, Rosen F. S. Complete correction of the Wiskott-Aldrich syndrome by allogenic bone marrow transplantation. New * Engl. J. Med 298: 921-931 1978;
  • 163 Passy T. E. Hermansky-Pudlak syndrome and factor VIII-Ristocetin-cofactor. Brit. J. Haemat 41: 449-452 1979;
  • 164 Pearlman D, McIntosh K, Favara B. Improved platelet function following bone marrow transplantation in an infant with the Wiskott-Aldrich syndrome. J. Pediatr 82: 58-64 1973;
  • 165 Peerschke E. I, Grant R. A, Zucker M. B. Decreased association of 45-Calcium with platelets unable to aggregate due to thrombasthenia or prolonged calcium deprivation. Brit. J. Haemat 46: 247-256 1980;
  • 166 Perret B, Levy-Toledano S, Plantavid M, Bredoux R, Chap H, Tobelem G, Douste-Blazy L, Caen J. P. Abnormal phospholipid organization in Bernard-Soulier platelets. Thrombos. Res 31: 529-537 1983;
  • 167 Perry S, Yankee R. A. Transfusion and Preservation. In: Johnson S. A. (ed.): The Circulating Platelet. Academic Press; New York: 1971: 541-563.
  • 168 Petz A, Smith J, Nelson N. The May-Hegglin anomaly: a study of three cases. Clin. Res 03: 215 1960;
  • 169 Pfueller S. L, Firkin B. G. The role of fibrinogen in the interaction of platelets with particles. Thromb. Haemostas 38: 68 1977;
  • 170 Phillips D. R. Platelet membrane glycoproteins in normal and genetically abnormal platelets. Thromb. Haemostas 38: 232 1977;
  • 171 Phillips D. R, Jenkins C. S. P, Liischer E. F, Larrieu M. J. Molecular differences of exposed surface proteins on thrombasthénie platelet plasma membranes. Nature 257: 599-600 1975;
  • 172 Phillips D. R, Agin P. o. hP. Platelet membrane defects in Glanzmann’s thrombasthenia. Evidence for decreased amounts of two major glycoproteins. J. Clin. Inves 60: 535-545 1977;
  • 173 Principedel D, Ballati G, Castro M, Digilio O, Giardini O. Purpura characterised by thrombasthenia associated with alterations of blood lipids. Acta haemat 51: 55-62 1974;
  • 174 Raccuglia G. “Gray platelets syndrome”: a new thrombocytopathy. Ann. Intern. Med 70: 1085-1086 1969;
  • 175 Reichert N, Seligsohn U, Ramot B. Clinical and genetic aspects of Glanzmann’s thrombasthenia in Israel. Report of 22 cases. Thromb. Diath. Haemorrh 34: 806-820 1975;
  • 176 Rendu F, Breton-Gorius J, Lebret M, Klebanoff C, Buriot D, Griscelli C, Levy-Toledano S, Caen J. P. Evidence that abnormal platelet functions in human Chediak-Higashi syndrome are the result of a lack of dense bodies. Amer. J. Path Ill: 307-314 1983;
  • 177 Rendu F, Breton-Grorius J, Tru-gnan G, Castro-Malaspina H, An-drieu J. M, Bereziat G, Lebret M, Caen J. P. Studies on a new variant of the Hermansky-Pudlak syndrome: Qualitative, ultra-structural, and functional abnormalities of the platelet-dense bodies associated with a phospholipase A defect. Amer. J. Haemat 04: 387-399 1978;
  • 178 Rendu F, Maclouf J, Boinot C, Levy-Toledano S. Evidence that dense bodies are involved in the alphagranule liberation from normal and Hermansky-Pudlak syndrome platelets. Thromb. Haemostas 50: 213 1983;
  • 179 Rendu F, Nurden A. T, Lebret M, Caen J. P. Relationship between mepacrine-labelled dense body number, platelet capacity to accumulate 14C-5-HT and platelet density in the Bernard-Soulier and Hermansky-Pudlak syndromes. Thrombos. Haemostas 42: 694-704 1979;
  • 180 Roget J, Mouriquand C, Bachelot C, Kolodie L, Pout J, Franco A. Anomalie de May-Hegglin: Observation familiale de 8 cas. Arch. Fr. Pediatr 28: 887 1971;
  • 181 Ruan C, Tobelem G, McMichael A. J, Drouet L, Legrand Y, Degos L, Kieffer N, Lee A, Caen J. P. Monoclonal antibody to human platelet glycoprotein I. II. Effects on human platelet function. Brit. J. Haemat 49: 511-519 1981;
  • 182 Sahud M. A, Aggeler P. M. Platelet disfunction. Differentiation of a newly recognized primary type from that produced by aspirin. New Engl. J. Med 280: 453-459 1969;
  • 183 Samama M, Lecrubier C, Conard J, Hotchen M, Breton-Gorius J, Vargaftig B, Chignard M, Lagarde M, Dechavan-ne M. Constitutional thrombocytopathy with subnormal response to thromboxane A2. Brit. J. Haemat 48: 293-303 1981;
  • 184 Saraya A. U, Kasturi J, Kishan R. Platelet factor 3 in Glanzmann’s thrombasthenia. Acta Haemat 48: 116-124 1972;
  • 185 Scheck R, Rasche H, Queißer W, Burkhardt H, Calvo W. Thrombozytopathie durch ADP-Freisetzungshemmung (»aspi-rin-like«) bei einem eineiigen Zwillingspaar. Dtsch. Med. Wschr 100: 1842-1846 1975;
  • 186 Schinella R. A, Greco M. A, Cobert B. L, Denmark L. W, Cox R. P. Hermansky-Pudlak syndrome with granulomatous colitis. Ann. Int. Med 92: 20-23 1980;
  • 187 Scholer H, Imhof H, Schnös M. Beobachtungen an einem weiteren Träger der May-Hegglinschen Anomalie der Leukozyten und Blutplättchen. Schweiz. Med. Wschr 44: 1273 1960;
  • 188 Schwartz J. P, Cooperberg A. A, Rosenberg A. Platelet function studies in patients with glucose-6-phosphate dehydrogenase deficiency. Brit. J. Haemat 27: 273-280 1974;
  • 189 Shulman S, Karpatkin S. Crossed immunelectrophoresis of human platelet membranes: Diminished major antigen in Glanzmann’s thrombasthenia and Bernard-Soulier syndrome. J. Biol. Chem 255: 4320-4327 1980;
  • 190 Stormorken H, Gogstad G. O, Solum N. O, Pande H. Diagnosis of heterozygotes in Glanzmann’s thrombasthenia. Thromb. Haemost 48: 217-221 1982;
  • 191 Stuart M. J. Inherited defects of platelet function. Semin. Hematol 12: 233-253 1975;
  • 192 Sultan Y, Brouet J. C, Devergie A. Isolated platelet factor 3 deficiency. New Engl. J. Med 294: 1121 1976;
  • 193 Sultan Y, Scrobahaci M. L, Rendu R, Caen J. P. Abnormal platelet function, population and survival time in a boy with congenital absent radii and thrombocytopenia. Lancet II: 653 1972;
  • 194 Tobelem G, Levy-Toledano S, Nurden A. T, Dejos L, Caen J. P. Further studies on a specific platelet antibody found in Bernard-Soulier syndrome and its effects on normal platelet function. Brit. J. Haemat 41: 427-436 1979;
  • 195 Tongio M. M, Lutz P, Hauptmann G, Rodier L, Levy J-M, Mayer S, Cazenave J-P. Type I Glanzmann’s thrombasthenia segregates independently of Ss and Duffy systems and the A, B, C, factor B, C2 and C4 loci of the HLA complex. Tissue Antigens 20: 22-27 1982;
  • 196 Ulutin O. N. Qualitative platelet disorders: Classification and pathogenesis. Ann. New York Acad. Sei 201: 174-193 1972;
  • 197 Verloop M. C, Wieringen A. V, Vuylsteke J, Hart C. hH, Huizinga J. Albinismus, hämorrhagische Diathese und anomale Pigmentzellen im Knochenmark. Med. Klinik 50: 408-412 1964;
  • 198 Vermylen J, Donati M. B, DeGaeta-no G, Verstraete M. Aggregation of human platelets by bovine or human factor VIII: Role of carbohydrate side chains. Nature 244: 167-168 1973;
  • 199 Vinazzer H. Familial Glanzmann’s disease - observations during pregnancy and delivery. In: O.N. Ulutin (Ed.): Platelets. Excerpta Med., Amsterdam, Int. Congr. Series 357: 255-258 1974;
  • 200 Volpe E, Cuccurullo L, Valente A, Jori G. P, Buonanno G. The May-Hegglin anomaly. Acta Haemat 52: 238-247 1974;
  • 201 Walsh P. N, Mills C. B, Pareti F. I, Stewart G. J, MacFarlane D. E, Johnson M. M, Egan J. J. Hereditary giant platelet syndrome. Absence of collageninduced coagulant activity and deficiency of factor XI binding to platelets. Brit. J. Haemat 29: 639-655.
  • 202 Wassmuth D. R, Hamilton H. E, Sheets R. F. May-Hegglin anomaly. Hereditary affection of granulocytes and platelets. JAMA 183: 737-740 1963;
  • 203 Weiden P. L, Blaese R. M. Hereditary thrombocytopenia: Relation to Wiskott-Aldrich syndrome with special reference to splenectomy. Blaese: J. Pediat 80: 226-234 1972;
  • 204 Weiss H. J. Platelet aggregation, adhesion and adenosine diphospate release in thrombopathia (platelet factor 3 deficiency. A comparison with Glanzmann’s thrombasthenia and von Willebrands disease. Amer. J. Med 43: 570-578 1967;
  • 205 Weiss H. J. Platelet physiology and abnormalities of platelet function (second of two parts). New Engl. J. Med 580-588 1975;
  • 206 Weiss H. J, Ames R. P. Ultrastructural findings in storage pool disease and Aspirin-like defects of platelets. Amer. J. Path 71: 447-467 1973;
  • 207 Weiss H. J, Chervenick P. A, Zalusky R. A familial defect in platelet function associated with impaired release of adenosine diphosphate. New Engl. J. Med 281: 1264-1270 1969;
  • 208 Weiss H. J, Rogers J. Thrombocytopathia due to abnormalities in platelet release reaction: studies on six unrelated patients. Blood 39: 187-196 1972;
  • 209 Weiss H. J, Tschopp T. B, Baumgartner H. R, Sussmann I. I, Johnson M. M, Eqan J. J. Decreased adhesion of giant (Bernard-Soulier) platelets to subendothelium. Further implications on the role of the von Willebrand factor in Hemostasis. Amer. J. Med 57: 920-925 1974;
  • 210 Weiss H. J, Lages B. A, Witte L. D, Kaplan K. L, Goodman D. S, Nossel H. L, Baumgartner H. R. Storage pool disease: Evidence for clinical and biochemical heterogeneity. Thromb. Haemostas 38: 3 1977;
  • 211 Weiss H. J, Witte L. D, Kaplan K. L, Lages B. A, Chernoff A, Nossel H. L, Goodman D. S, Baumgartner H. R. Heterogeneity in storage pool deficiency: Studies on granule-bound substances in 18 patients including variants deficient in alpha-granules, platelet factor 4, ß-thromboglobulin, and platelet derived growth-factor. Blood 54: 1296-1319 1979;
  • 212 White J. G. Ultrastructural defects in congenital disorders of platelet function. Ann. N.Y. Acad. Sei 201: 205-233 1972;
  • 213 White J. G. Electron microscopic studies of platelet secretion. Prog. Hemostas. Thromb 02: 49-98 1974;
  • 214 White J. G. Ultrastructural studies of the gray platelet syndrome. Amer. J. Path 95: 445-462 1979;
  • 215 White J. G, Edson J. R, Desnick S. J, Witkop C. J. Studies of platelets in a variant of the Hermansky-Pudlak syndrome. Amer. J. Path 63: 319-329 1971;
  • 216 White J. G, Gerrard J. M. Ultrastructural features of abnormal blood platelets. Amer. J. Pathol 83: 590-614 1976;
  • 217 White J. G, Gerrard J. M, Rao G. H. R, Edson J. R, Witkop C. J. Differences in platelet storage pool deficiency (SPD) of Hermansky-Pudlak syndrome (HPS) and non-albinos (NA. Thromb. Diath. Haemorrh 34: 360 1975;
  • 218 Willis A. L, Weiss H. J. A congenital defect in platelet prostaglandin production associated with impaired hemostasis in storage pool disease. Prostaglandins 04: 783-794 1973;
  • 219 Windhorst D. B, Padgett G. The Chediak-Higashi syndrome and the homologous trait in animals. J. Invest. Dermatol 60: 529-537 1973;
  • 220 Winter M, Needham J, Barkhan P. Factor XI deficiency and a platelet defect. Haemostasis 13: 83-88 1983;
  • 221 Wiskott H. Familiärer, angeborener Morbus Werlhoff. Monatsschr. Kinderheilk 68: 212-216 1937;
  • 222 Witkop C. J, Hill C. W, Desnick S, Thies J. K, Thorn H. L, Jenkins M, White J. G. Ophtalmologie, biochemical platelet and ultrastructural defects in the various types of oculocutaneous albinism. J. Invest. Dermatol 60: 443-456 1973;
  • 223 Wood N. Management of extractions in a case of Glanzmann’s disease. Brit. J. Oral Surg 11: 152-154 1973;
  • 224 Wu K. K, Ku C. S. L, Chen Y. C. Reduced platelet sialyltransferase activity in patients with primary release disorder. Lancet II: 440-444 1980;
  • 225 Zahavi J, Gale R, Sacks Z. Storage pool disease of platelets in an infant with thrombocytopenic absent radii syndrome simulating Fanconi anemia. Thromb. Haemostas 38: 283 1977;
  • 226 Zonneveld G. T. E, van Leeuwen E. F, Sturk A, ten Cate J. W. Detection of carriers in Glanzmann’s thrombasthenia. Thromb. Haemostas 49: 182-186 1983;
  • 227 Zucker S, Mielke H, Durocher J. R. Oozing and bruising due to abnormal platelet function (Thrombocytopathy. Ann. Intern, med 76: 725-731 1972;
  • 228 Zucker M. B, Pert J. H, Hilgartner M. W. Platelet function in a patient with thrombasthenia. Blood 28: 524-534 1966;
  • 229 Zwierzina W. D, Schmalzl F, Kunz F, Dworzak E, Linker H, Geissler D. Studies in a case of Bernard-Soulier-Syndrome. Acta haemat 69: 195-203 1983;