Hereditary Disorders of Platelet Function

  • Francine Rendu
  • Evelyne Dupuy
Part of the Blood Cell Biochemistry book series (BLBI, volume 2)


The main function of blood platelets is to initiate the hemostatic process. Platelets help to stop bleeding, repair the vascular system after an injury, and maintain the integrity of the vessel wall. In 1918, Glanzmann first reported that a congenital hemorrhagic disease was the consequence of inherited abnormal platelet function.


Platelet Function Dense Granule Platelet Disorder Giant Platelet Glanzmann Thrombasthenia 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. Akkerman, J. W. N., van Brederode, W., Goiter, G., Zegers, B. J. M., and Kuis, W., 1982, The WiskottAldrich syndrome: Studies on a possible defect in mitochondrial ATP resynthesis in platelets, Br. J. Haematol. 51: 561–568.PubMedGoogle Scholar
  2. Akkerman, J. W. N., Nieuwenhuis, H. K., Mommersteeg-Leautaud, M. E., Gorter, G., and Sixma, J. J., 1983, ATP-ADP compartmentation in storage pool deficient platelets: Correlation between granule-bound ADP and the bleeding time, Br. J. Haematol. 55: 135–143.PubMedGoogle Scholar
  3. Apitz-Castro, R., Cruz, M. R., Ledezma, E. Merino, F., Ramirez-Duque, P., Dangelmaier, C., and Holmsen, H., 1985, The storage pool deficiency in platelets from humans with the Chediak-Higashi syndrome: study of six patients. Br. J. Haematol. 59: 471–483.PubMedGoogle Scholar
  4. Baldini, M. G., 1972, Nature of the platelet defect in the Wiskott-Aldrich syndrome, Ann. N.Y. Acad. Sci. 201: 437–444.PubMedGoogle Scholar
  5. Barak, Y., and Nir, E., 1987, Chediak-Higashi syndrome, Am. J. Ped. Hematol. Oncol. 9: 42–55.Google Scholar
  6. Bednar, B., Hermansky, F., and Lodjda, Z., 1964, Vascular pseudohemophilia associated with ceroid pigmentophagia in albinos, Am. J. Pathol. 45: 283–291.PubMedGoogle Scholar
  7. Bell, T. G., Meyers, K. M., Prieur, D. J., Fauci, A. S., Wolff, S. M., and Padgett, G. A., 1976, Decreased nucleotide and serotonin storage associated with defective function in Chediak-Higashi syndrome cattle and human platelets, Blood 48: 175–184.PubMedGoogle Scholar
  8. Bellucci, S., Devergie, A., Gluckman, E., Tobelem, G., Lethielleux, P., Benbunan, M., Schaison, G., and Boiron, M., 1985, Complete correction of Glanzmann’s thrombasthenia by allogenic bone-marrow transplantation, Br. J. Haematol. 59: 635–641.PubMedGoogle Scholar
  9. Bennett, J. S., and Vilaire, G., 1979, Exposure of platelet fibrinogen receptors by ADP and epinephrine, J. Clin. Invest. 64: 1393–1401.PubMedGoogle Scholar
  10. Bentfeld, M. E., and Bainton, D. F., 1982, Identification of primary lysosomes in human megakaryocytes and platelets, Blood 59: 472–481.Google Scholar
  11. Bernard, J., and Soulier, J. P., 1948, Sur une nouvelle variété de dystrophie hemorragipare congénitale, Semin. Hop. Paris 24: 3217–3223.Google Scholar
  12. Berndt, M. C., Gregory, C., Chong, B. H., Zola, M., and Castaldi, P. A., 1983, Additional glycoprotein defects in Bemard-Soulier’s syndrome: Confirmation of genetic basis by parental analysis, Blood 62: 800–807.PubMedGoogle Scholar
  13. Bernheim, J., Dechavanne, M., Bryon, P. A., Lagarde, M., Colon, S., Pozet, N., and Traeger, J., 1976, Thrombocytopenia, macrothrombocytopathia, nephritis and deafness, Am. J. Med. 61: 145–150.PubMedGoogle Scholar
  14. Bevers, E. M., Comfurius, P., Nieuwenhuis, H. K., Levy-Toledano, S., Belluci, S., Caen, J. P., and Zwaal, R. F. A., 1986, Platelet prothrombin converting activity in hereditary disorders of platelet function, Br. J. Haematol. 63: 335–345.PubMedGoogle Scholar
  15. Bithell, T. C., Parekh, S. J., and Strong, R. R., 1972, Platelet-function studies in the Bernard-Soulier syndrome., Ann. N.Y. Acad. Sci. 201: 145–160.PubMedGoogle Scholar
  16. Blaese, R. M., Strober, W., Levy, A. L., and Waldmann, T. A., 1971, Hypercatabolism of IgG, IgA, IgM, and albumin in the Wiskott-Aldrich syndrome, a unique disorder of serum protein metabolism, J. Clin. Invest. 50: 2331–2340.PubMedGoogle Scholar
  17. Blume, R. S., and Wolff, S. M., 1972, The Chediak-Higashi syndrome: Studies in four patients and a review of the literature, Medicine 51: 247–280.PubMedGoogle Scholar
  18. Bolin, R. B., Okumura, T., and Jamieson, G. A., 1977, New polymorphism of platelet membrane glycoproteins, Nature (London) 269: 69–70.Google Scholar
  19. Boxer, G. J., Holmsen, H., Robkin, L., Bang, N. U., Boxer, L. A., and Baehner, R. L., 1977, Abnormal platelet function in Chediak-Higashi syndrome, Br. J. Haematol. 35: 521–533.PubMedGoogle Scholar
  20. Breton-Gorius, J., Vainchenker, W., Nurden, A., Levy-Toledano, S., and Caen, J. P., 1981, Defective a-granule production in megakaryocytes from gray platelet syndrome. Ultrastructural studies of bone marrow cells and megakaryocytes growing in culture from blood precursors, Am. J. Pathol. 102: 10–19.PubMedGoogle Scholar
  21. Bryckaert, M. C., Pietu, G., Ruan, C., Tobelem, G., Girma, J. P., Meyer, D., Larrieu, M. J., and Caen J. P., 1985, Abnormality of glycoprotein Ib in two cases of “pseudo”-von Willebrand’s disease, J. Lab. Clin. Med. 106: 393–400.PubMedGoogle Scholar
  22. Buchanan, G. R., and Handin, R. I., 1976, Platelet function in the Chediak-Higashi syndrome, Blood 47: 941–948.PubMedGoogle Scholar
  23. Caen, J. P., 1972, Glanzmann thrombasthenia, Clin. Haematol. 1: 383–392.Google Scholar
  24. Caen, J. P., and Levy-Toledano, S., 1973, Interaction between platelets and von Willebrand factor provides a new scheme for primary haemostasis, Nature (London) 244: 159–160.Google Scholar
  25. Caen, J. P., and Michel, H., 1972, Platelet shape change and aggregation, Nature (London) 240: 148–149.Google Scholar
  26. Caen, J. P., Castaldi, P. A., Leclerc, J. C., Inceman, S., Larrieu, M. J., Probst, M., and Bernard, J., 1966, Congenital bleeding disorders with long bleeding time and normal platelet count, Am. J. Med. 41: 4–26.Google Scholar
  27. Caen, J. P., Sultan, Y., and Larrieu, M. J., 1968, A new familial platelet disease, Lancet 1: 203–204.Google Scholar
  28. Caen, J. P., Norden, A. T., Jeanneau, C., Michel, H., Tobelem, G., Levy-Toledano, S., Sultan, Y., Valensi, F., and Bernard, J., 1976, Bemard-Soulier syndrome: A new platelet glycoprotein abnormality. Its relationship with platelet adhesion to subendothelium and with the factor VIII von Willebrand protein, J. Lab Clin. Med. 87: 586–596.PubMedGoogle Scholar
  29. Caen, J. P., Deschamps, J. F., Bodevin, E., Bryckaert, M. C., Dupuy, E., and Wasteson, A., 1987, Megakaryocytes and myelofibrosis in gray platelet syndrome, Nouv. Rev. Fr. Hématol. 29: 109–114.PubMedGoogle Scholar
  30. Chevalier, J., Norden, A. T., Thiery, J. M., Savariau, E., and Caen, J. P., 1979, Freeze-fracture studies on the plasma membranes of normal human, thrombasthenic, and Bernard-Soulier platelets, J. Lab. Clin. Med. 94: 232–245.PubMedGoogle Scholar
  31. Choquette, D., Hakim, G., Filotep, A. G., Plishker, G. A., Bostwick, J. R., and Penniston, J. T., 1984, Regulation of plasma membrane Caz+ ATPases by lipids of the phosphatidylinositol cycle, Biochem. Biophys. Res. Commun. 125: 908–915.PubMedGoogle Scholar
  32. Clare, N. M., Montiel, M. M., Lifschitz, M. D., and Bannayar, G. A., 1979, Alport’s syndrome associated with macrothrombopathic thrombocytopenia. Am. J. Clin. Pathol. 72: 111–117.PubMedGoogle Scholar
  33. Clemetson, K. J., McGregor, J. L., James, E., Dechavanne, M., and Luscher, E. F., 1982, Characterization of the platelet membrane glycoprotein abnormalities in Bernard-Soulier syndrome and comparison with normal by surface-labeling techniques and high-resolution two-dimensional gel electrophoresis, J. Clin. Invest. 70: 304–311.PubMedGoogle Scholar
  34. Coller, B. S., and Zarrabi, M. H., 1981, Platelet membrane studies in the May-Hegglin anomaly, Blood 58: 279–284.PubMedGoogle Scholar
  35. Coller, B. S., Seligsohn, U., Zivelin, A., Zwang, E., Lusky, A., and Modan, M., 1986, Immunologic and biochemical characterization of homozygous and heterozygous Glanzmann thrombasthenia in the Iraqi-Jewish and arab populations of Israel: Comparison of techniques for carrier detection. Br. J. Haematol. 62: 723–735.PubMedGoogle Scholar
  36. Costa, J. L., Fauci, S., and Wolff, S. M., 1976, A platelet abnormality in the Chediak-Higashi syndrome of man, Blood 48: 517–520.PubMedGoogle Scholar
  37. Cramer, E. M., Vainchenker, W., Vinci, G., Guichard, J., and Breton-Gorius, J., 1985, Gray platelet syndrome: Immunoelectron microscopic localization of fibrinogen and von Willebrand factor in platelets and megakaryocytes, Blood 66: 1309–1316.PubMedGoogle Scholar
  38. Davies, B., and Tuddenham, E. G. D., 1976, Familial pulmonary fibrosis associated with oculocutaneous albinism and platelet function defect, Q. J. Med. 45: 219–232.PubMedGoogle Scholar
  39. Day, H. F., and Holmsen, H. J., 1972, Platelet adenine nucleotides “storage pool deficiency” in thrombocytopenic absent radii syndrome, J. Am. Med. Assoc. 221: 1053–1054.Google Scholar
  40. Defreyn, G., Machin, S. J., Carreras, L. O., Dauden, M. V., Chamone, D. A. F., and Vermylen, J., 1981, Familial bleeding tendency with partial platelet thromboxane synthetase deficiency: Reorientation of cyclic endoperoxide metabolism, Br. J. Haematol. 49: 29–41.PubMedGoogle Scholar
  41. Depinho, R. A., and Kaplan, K. L., 1985, The Hermansky-Pudlak syndrome, report of three cases and review of pathophysiology and management considerations, Medicine 64: 192–202.PubMedGoogle Scholar
  42. Djaldetti, M., Creter, D., Bujanover, Y., and Elian, E., 1982, Ultrastructural and functional studies of the platelets in patients with May-Hegglin anomaly, Haematology 67: 530–538.Google Scholar
  43. Dowton, S. B., Beardsley, D., Jamison, D., Blettner, S., and Li, F. P., 1985, Studies of a familial platelet disorder, Blood 65: 557–563.PubMedGoogle Scholar
  44. Drouet, L., Praloran, V., Cywiner-Golenzer, C., Trehen, C., Flandrin, G., and Caen, J. P., 1981, Déficit congénital en a-granules plaquettaires et fibrose réticulinique médullaire. Hypothèse physiopathogénique, Nouv. Rev. Fr. Hématol. 23: 95–100.PubMedGoogle Scholar
  45. Drouin, J., McGregor, J. L., Parmentier, S., Izaguirre, C. A., and Clemetson, K. J., 1988, Residual amounts of glycoprotein Ib concomitant with near-absence of glycoprotein IX in platelets of Bernard-Soulier patients, Blood 72: 1086–1088.PubMedGoogle Scholar
  46. Eckstein, J. D., Filip, D. J., and Watts, J. C., 1975, Hereditary thrombocytopenia, deafness, and renal disease, Ann. Intern. Med. 82: 639–645.PubMedGoogle Scholar
  47. Enouf, J., Lebret, M., Bredoux, R., Levy-Toledano, S., and Caen, J. P., 1987, Abnormal calcium transport into microsomes of grey platelet syndrome, Br. J. Haematol. 65: 437–440.PubMedGoogle Scholar
  48. Epstein, C. J., Sahud, M. A., Piel, C. F., Goodman, J. R., Bernfield, M. R., Kushner, J. H., and Ablin, A. R., 1972, Hereditary macrothrombocytopathia, nephritis and deafness, Am. J. Med. 52: 299–310.PubMedGoogle Scholar
  49. Fanconi, G., 1967, Familial constitutional panmyelocytopathy, Fanconi’s anemia (F.A.). I. Clinical aspects, Semin. Hematol. 4: 233–248.PubMedGoogle Scholar
  50. Fauvel, F., Grant, M. E., Legrand, Y. L., Souchon, H., Tobelem, G., Jackson, D. S., and Caen, J. P., 1983, Interaction of blood platelets with a microfibrillar extract from adult bovine aorta: Requirement for von Willebrand factor, Proc. Natl. Acad. Sci. USA 80: 551–554.PubMedGoogle Scholar
  51. Fearon, E. R., Kohn, D. B., Winkelstein, J. A., Vogelstein, B., and Blaese, M., 1988, Carrier detection in the Wiskott-Aldrich syndrome, Blood 72: 1735–1739.PubMedGoogle Scholar
  52. Ferrell, J. E., and Martin, G. S., 1989, Tyrosine-specific protein phosphorylation is regulated by glycoprotein IIb-IIIa in platelets, Proc. Natl. Acad. Sci. USA 86: 2234–2238.PubMedGoogle Scholar
  53. Frojmovic, M. M., Milton, J. G., Caen, J. P., and Tobelem, G., 1978, Platelets from giant platelet syndrome (BSS) are discocytes and normal sized, J. Lab Clin. Med. 91: 109–118.PubMedGoogle Scholar
  54. Fujimura, K., Fujimoto, T., Takemoto, M., Oda, K., Shimomura, T., Maehama, S., and Kuramoto, A., 1990, Analysis of platelet cytoskeleton assembly during platelet activation in Hermansky-Pudlak syndrome and thrombasthenia. Thromb. Haemostasis 63: 103–111.Google Scholar
  55. Garay, S. M., Gardella, J. E., Fazzini, E. P., and Goldring, R. M., 1979, Hermansky-Pudlak syndrome: Pulmonary manifestations of a ceroid storage disorder, Am. J. Med. 66: 737–747.PubMedGoogle Scholar
  56. Gaxiola, B., Friedl, W., and Propping, P., 1984, Epinephrine-induced platelet aggregation. A twin study, Clin. Genet. 26: 543–548.PubMedGoogle Scholar
  57. George, J. N., Reimann, T. A., Moake, J. L., Morgan, R. K., Cimo, P. L., and Sears, D. A., 1981, BemardSoulier disease: A study of four patients and their parents, Br. J. Haematol. 48: 459–467.PubMedGoogle Scholar
  58. George, J. N., Nurden, A. T., and Phillips, D. R., 1984, Molecular defects in interactions of platelets with the vessel wall, N. Engl. J. Med. 311: 1084–1098.PubMedGoogle Scholar
  59. Gerrard, J. M., Phillips, D. R., Rao, G. H. R., Plow, E. F., Walz, D. A., Ross, R., Harker, L. A., and White, J. G., 1980, Biochemical studies of two patients with the gray platelet syndrome: Selective deficiency of platelet alpha granules, J. Clin. Invest. 66: 102–109.PubMedGoogle Scholar
  60. Gerritsen, S. M., Akkerman, J. W. N., Nijmeijer, B., Sixma, J. J., Witkop, C. J., and White, J., 1977, The Hermansky-Pudlak syndrome: Evidence for a lowered 5-hydroxytruptamine content in platelets of hetero-zygotes, Scand. J. Haematol. 18: 249–256.PubMedGoogle Scholar
  61. Gerritsen, S. M., Akkerman, J. W. N., Staal, G., Roelofsen, B., Koster, J. F., and Sixma, J. J., 1979, Biochemical studies in Hermansky-Pudlak syndrome, Sand. J. Haematol. 23: 161–168.Google Scholar
  62. Girolami, A., Brunetti, A., Fioretti, D., and Gravina, E., 1973, Congenital thrombocytopathy (platelet factor 3 defect) with prolonged bleeding time but normal platelet adhesiveness and aggregation, Acta Haematol. 50: 116–123.PubMedGoogle Scholar
  63. Girolami, A., Randi, M., Casonato, A., Pasini, L., Bocatto, C., and Fabris, F., 1980, A study of platelet function and morphology in a new family with May-Hegglin anomaly, Folia Haematol. 107: 256–268.Google Scholar
  64. Gogstad, G. O., Hagen, I., Korsmo, R., and Solum, N. O., 1981, Characterization of the proteins of isolated human platelet alpha-granules. Evidence for a separate alpha-granule pool of the glycoproteins IIb and IIIa, Biochim, Biophys. Acta, 670: 150–162.Google Scholar
  65. Goodwin, H. A., and Ginsburg, D., 1974, May-Hegglin anomaly: A defect in megakaryocyte fragmentation? Br. J. Haematol. 26: 117–128.Google Scholar
  66. Goudemand, M., and Parquet-Gemez, A., 1973, L’anomalie de May-Hegglin, Nouv. Rev. Fr. Hématol. 13: 568–573.PubMedGoogle Scholar
  67. Greaves, M., Pickering, C., Martin, J., Cartwright, I., and Preston, F. E., 1987, A new familial “giant platelet syndrome” with structural, metabolic and functional abnormalities of platelets due to primary megakaryocyte defect, Br. J. Haematol. 65: 429–435.PubMedGoogle Scholar
  68. Green, D., Ts’ao, C. H., Cohen, I., and Rossi, E. C., 1981, Haemorrhagic thrombocytopathy associated with dilatation of the platelet-membrane complex. Br. J. Haematol. 48: 595–600.PubMedGoogle Scholar
  69. Greenberg, J. P., Packham, M. A., Guccione, M. A., Rand, M. L., Reimers, H. J., and Mustard, J. F., 1979, Survival of rabbit platelets treated in vitro with chymotrypsin, plasmin, trypsin, or neuraminidase, Blood 53: 916–927.PubMedGoogle Scholar
  70. Gröttum, K. A., and Solum, N. O., 1969, Congenital thrombocytopenia with giant platelets: A defect in the platelet membrane, Br. J. Haematol. 16: 277–290.PubMedGoogle Scholar
  71. Gröttum, K. A., Hovig, T., Holmsen, H., Abrahamsen, A. F., Jeremic, M., and Seip, M., 1969, WiskottAldrich syndrome: Qualitative defects and short platelet survival, Br. J. Haematol. 17: 373–388.PubMedGoogle Scholar
  72. Gruel, Y., Boizard, B., Daffos, F., Forestier, F., Caen, J., and Wautier, J. L., 1986, Determination of platelet antigens and glycoproteins in the human fetus, Blood 68: 488–492.PubMedGoogle Scholar
  73. Hall, J. G., Levin, J., Kuhn, J. P., Ottenheimer, E. J., van Berkum, K. A. P., and McKusic, V. A., 1969, Thrombocytopenia with absent radius (tar), Medicine 48: 411–439.PubMedGoogle Scholar
  74. Hamilton, R. W., Shaiikh, B. S., Ottie, J. N., Storch, A. E., Saleem, A., and White, J. G., 1980, Platelet function, ultrastructure, and survival in the May-Hegglin anomaly, Am. J. Clin. Pathol. 74: 663–668.PubMedGoogle Scholar
  75. Hansen, M. S., Behnke, 0., Pedersen, N. T., and Videbaek, A., 1978, Megathrombocytopenia associated with glomerulonephritis, deafness and aortic cystic medianecrosis. Scand. J. Haematol. 21: 197–205.Google Scholar
  76. Hardisty, R. M., and Hutton, R. A., 1967, Bleeding tendency associated with a “new” abnormality of platelet behavior, Lancet 1: 983–984.PubMedGoogle Scholar
  77. Hardisty, R. M., Dormandy, K. M., and Hutton, R. A., 1964, Thrombasthenia: Studies on three cases, Br. J. Haematol. 10: 371–387.PubMedGoogle Scholar
  78. Hardisty, R. M., Mills, D. C. B., and Ketsa-Ard, K., 1972, The platelet defect associated with albinism, Br. J. Haematol. 23: 679–692.PubMedGoogle Scholar
  79. Hardisty, R. M., Machin, S. J., Nokes, T. J. C., Rink, T. J., and Smith, S. W., 1983, A new congenital defect of platelet secretion: Impaired responsiveness of the platelets to cytoplasmic free calcium, Br. J. Haematol. 53: 543–557.PubMedGoogle Scholar
  80. Hattori, A., Takahashi, H., Takahashi, M., Shibata, A., and Okuma, M., 1981, A new familial defect of platelet release mechanism (the intracellular Ca+ + transport defect?), Nippon Gakkai Zasshi 44: 969–972.Google Scholar
  81. Heagerty, A. M., and Ollerenshaw, J. D., 1987, The phosphoinositide signalling system and hypertension, J. Hypertension 5: 515–524.Google Scholar
  82. Hermansky, F., and Pudlak, P., 1959, 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.PubMedGoogle Scholar
  83. Heynen, M. J., Blockmans, D., Verwilghen, R. L., and Vermylen, J., 1988, Congenital macrothrombocytopenia, leucocyte inclusions, deafness and proteinuria: functional and electron microscopic observations on platelet and megakaryocytes, Br. J. Haematol. 70: 441–448.PubMedGoogle Scholar
  84. Holmsen, H., and Weiss, H. J., 1970, Hereditary defect in the release reaction caused by a deficiency in the storage pool of platelet adenine nucleotides, Br. J. Haematol. 19: 643–649.PubMedGoogle Scholar
  85. Holmsen, H., and Weiss, H. J., 1972, Further evidence for a deficient storage pool of adenine nucleotides in platelets from some patients with thrombocytopathia— “storage pool disease,” Blood 39: 197–209.PubMedGoogle Scholar
  86. Holmsen, H., Setkowsky, C. A., Lages, B., Day, H. J., Weiss, H. J., and Scrutton, M. C., 1975, Content and thrombin-induced release of acid hydrolases in gel-filtered platelets from patients with storage pool disease. Blood 46: 131–142.PubMedGoogle Scholar
  87. Holmsen, H., Walsh, P. N., Jonhson, M. M., Dangelmaier, C. A., Egan, J. J., Benzel, J. E., and Tuszynski, G. P., 1987, Familial bleeding disorder associated with deficiencies in platelet signal processing and glycoproteins, Br. J. Haematol. 67: 335–344.PubMedGoogle Scholar
  88. Homans, A. C., Cohen, J. L., and Mazur, E. M., 1988, Defective megakaryocytopoiesis in the syndrome of thrombocytopenia with absent radii, Br. J. Haematol. 70: 205–210.PubMedGoogle Scholar
  89. Horellou, M. H., Lecompte, T., Lecrubier, C., Fougue, F., Chignard, M., Conard, J., Vargaftig, B. B., Dray, F., and Samama, M., 1983, Familial and constitutional bleeding disorder due to platelet cyclo-oxygenase deficiency, Am. J. Hematol. 14: 1–9PubMedGoogle Scholar
  90. Hourdillé, P., Fialon, P., Belloc, F., Boisseau, M. R., and Andrieu, J. M., 1982, Mepacrine-labelling test and uranaffin cytochemical reaction in human megakaryocytes, Thromb. Haemostasis 47: 232–236.Google Scholar
  91. Hourdillé, P., Hasitz, M., Belloc, F., and Nurden, A. T., 1985, Immunocytochemical study of the binding of fibrinogen and thrombospondin to ADP- and thrombin-stimulated human platelets, Blood 65: 912–920.PubMedGoogle Scholar
  92. Howard, M. A., and Firkin, B. G., 1971, Ristocetin: A new tool in the investigation of platelet aggregation, Thromb. Diath. Haemorrh. 26: 362–369.PubMedGoogle Scholar
  93. Howard, M. A., Hutton, R. A., and Hardisty, R. M., 1973, Hereditary giant platelet syndrome: A disorder of a new aspect of platelet function, Br. J. Haematol. 2: 586–588.Google Scholar
  94. Ingerman, C. M., Smith, J. B., Shapiro, S., Sedar, A., and Silver, M. J., 1978, Hereditary abnormality of platelet aggregation attributable to nucleotide storage pool deficiency, Blood 52: 332–344.PubMedGoogle Scholar
  95. Jamieson, G. A., and Okumura, T., 1978, Reduced thrombin binding and aggregation in Bernard-Soulier, J. Clin. Invest. 61: 861–864.PubMedGoogle Scholar
  96. Jamieson, G. A., Okumura, T., Fishback, B., Jonhson, M. M., Egan, J. J., and Weiss, H. J., 1979, Platelet membrane glycoproteins in thrombasthenia, Bernard-Soulier syndrome, and storage pool disease, J. Lab Clin. Med. 93: 652–660.PubMedGoogle Scholar
  97. Jandrot-Perrus, M., Rendu, F., Caen, J. P., Levy-Toledano, S., and Guillin M. C., 1990, The common pathway for alpha-and gamma-thrombin-induced platelet activation is independent of GPIb: A study of Bernard-Soulier platelets, Br. J. Haematol.75,in press.Google Scholar
  98. Juhan, I., Bayle, J., Mattei, J. F., Thevenieau, D., Perrimond, H., and Muratore, R., 1979, Thrombopenie et aplasie radiale: Deux cas avec étude ultrastructurale et fonctionelle de la lignée mégacaryocytaire, Pathol. Biol. 27: 473–477.PubMedGoogle Scholar
  99. Kim, B. B. K., Chao, F. C., Leavitt, R., Fauci, A. S., Meyers, K. M., and Zamecnik, P. C., 1985, Diadenosine 5’,5“ ’-p I,p4-tetraphosphate deficiency in blood platelets of the Chediak-Higashi syndrome, Blood 66: 735–737.PubMedGoogle Scholar
  100. Kirchner, K. A., Smith, R. M., Gockerman, J. P., and Luke, R. G., 1982, Hereditary thrombotic thrombocytopenic purpura: Miroangiopathic hemolytic anemia, thrombocytopenia, and renal insufficiency occurring in consecutive generations, Nephron 30: 28–30.PubMedGoogle Scholar
  101. Köhler, M., Hellstem, P., Morgenstern, E., Mueller-Eckhardt, C., Berberich, R., Meiser, R. J., Scheffler, P., and Wenzel, E., 1985, Gray platelet syndrome: Selective a-granule deficiency and thrombocytopenia due to increased platelet turnover, Blut 50: 331–340.PubMedGoogle Scholar
  102. Koike, K., Rao, A. K., Holmsen, H., and Mueller, P. S., 1984, Platelet secretion defect in patients with the attention deficit disorder and easy bruising, Blood 63: 427–433.PubMedGoogle Scholar
  103. Kunicki, T. J., Jonhson, M. M., and Aster, R. H., 1978, Absence of the platelet receptor for drug-dependent antibodies in the Bernard-Soulier syndrome, J. Clin. Invest. 62: 716–719.PubMedGoogle Scholar
  104. Kurstjens, R., Bolt, C., Vossen, M., and Haanen, C., 1968, Familial thrombopathic thrombocytopenia, Br. J. Haematol. 15: 305–317.PubMedGoogle Scholar
  105. Lacombe, M., and d’Angelo, G., 1963, Etudes sur une thrombopathie familiale, Nouv. Rev. Fr. Hématol. 3: 611–614.PubMedGoogle Scholar
  106. Lagarde, M., Bryon, P. A., Vargaftig, B. B., and Dechavanne, M., 1978, Impairment of platelet thromboxane A2 generation and of the platelet release reaction in two patients with congenital deficiency of platelet cyclo-oxygenase, Br. J. Haematol. 38: 251–266.PubMedGoogle Scholar
  107. Lages, B., and Weiss, H. J., 1980, Biphasic aggregation responses to ADP and epinephrine in some storage pool deficient platelets: Relationship to the role of endogenous ADP in platelet aggregation and secretion, Thromb. Haemostasis 43: 147–153.Google Scholar
  108. Lages, B., and Weiss, H. J., 1988a, Impairment of phosphatidylinositol metabolism in a patient with a bleeding disorder associated with defects of initial platelet responses, Thromb. Haemostasis 59: 175–179.Google Scholar
  109. Lages, B., and Weiss, H. J., 1988b, Heterogeneous defects of platelet secretion and responses to weak agonists in patients with bleeding disorders, Br. J. Haematol. 68: 53–62.PubMedGoogle Scholar
  110. Lages, B., Scrutton, M. C., Holmsen, H., Day, H. J., and Weiss, H. J., 1975, Metal ion content of gel-filtered platelets from patients with storage pool disease, Blood 46: 119–130.PubMedGoogle Scholar
  111. Lages, B., Malmsten, C., Weiss, H. J., and Samuelsson, B., 1981, Impaired platelet response to thromboxaneA2 and defective calcium mobilization in a patient with a bleeding disorder, Blood 57: 545–552.PubMedGoogle Scholar
  112. Lages, B., Holmsen, H., Weiss, H. J., and Dangelmaier, C., 1983, Thrombin and ionophore A23187-induced dense granule secretion in storage pool deficient platelets: Evidence for impaired nucleotide storage as the primary dense granule defect, Blood 61: 154–162.PubMedGoogle Scholar
  113. Lages, B., Dangelmaier, C. A., Holmsen, H., and Weiss, H. J., 1988, Specific correction of impaired acid hydro-lase secretion in storage pool deficient platelets by adenosine diphosphate, J. Clin. Invest. 81: 1865–1872.PubMedGoogle Scholar
  114. Lee, H., Nurden, A. T., Thomaidis, A., and Caen, J. P., 1981, Relationship between fibrinogen binding and the platelet glycoprotein deficiencies in Glanzmann’s thrombasthenia type I and type II, Br. J. Haematol. 48: 47–57.PubMedGoogle Scholar
  115. Legrand, C., and Caen, J. P., 1976, Binding of 14C-ADP by thrombasthenic platelet membrane, Haemostasis 5: 231–238.PubMedGoogle Scholar
  116. Legrand, C., and Nurden, A. T., 1985, Studies on platelets of patients with inherited platelet disorders suggest that collagen-induced fibrinogen binding to membrane receptors requires secreted ADP but not released a-granule proteins. Thromb. Haemostasis 54: 603–606.Google Scholar
  117. Levy-Toledano, S., Maclouf, J., Rendu, F., Rigaud, M., and Caen, J. P., 1979, Ionophore A23187 and thrombasthenic platelets: A model of dissociating serotonin release and thromboxane formation from the aggregation, Thromb. Res. 16: 453–462.PubMedGoogle Scholar
  118. Levy-Toledano, S., Caen, J. P., Breton-Gorius, J., Rendu, F., Cywiner-Golenzer, C., Dupuy, E., Legrand, Y., and Maclouf, J., 1981, Gray platelet syndrome: a-Granule deficiency. Its influence on platelet functions, J. Lab. Clin. Med. 98: 831–848.PubMedGoogle Scholar
  119. Libanska, J., Falcao, L., Gautier, A., Ammon, J., Spahr, A., Vainer, H., and Caen, J. P., 1975, Thrombocytopénie thrombocytopathique hypogranulaire héréditaire. Etude ultrastructurale d’une mégacaryocytopathie, Nouv. Rev. Fr. Hématol. 15: 165–182.PubMedGoogle Scholar
  120. Lorez, H. P., Da Prada M., and Launay, J. M., 1977, Fluorescence microscopy of 5-HT organelles in normal and storage pool deficient blood platelets. Experientia 33: 823–824.Google Scholar
  121. Lorez, H. P., Richard, J. G., Da Prada, M., Picotti, G. B., Pareti, F. I., Capitanio, A., and Mannucci, P. M., 1979, Storage pool disease: Comparative fluorescence, microscopical, cytochemical and biochemical studies on amine-storage organelles of human blood platelets, Br. J. Haematol. 43: 297–305.PubMedGoogle Scholar
  122. Lum, L. G., Tubergen, D. G., Corash, L., and Blases, R. M., 1980, Splenectomy in the management of the thrombocytopenia of the Wiskott-Aldrich syndrome, N. Engl. J. Med. 302: 892–900.PubMedGoogle Scholar
  123. Lusher, J. M., Schneider, J., Mizukami, I., and Evans, R. K., 1968, The May-Hegglin anomaly: Platelet function, ultrastructure and chromosome studies, Blood 32: 950–959.PubMedGoogle Scholar
  124. Machin, S. J., Keenan, J. P., and McVerry, 1983, Defective platelet aggregation to the calcium ionophore A23187 in a patient with a lifelong bleeding disorder. J. Clin. Pathol. 36: 1140–1144.PubMedGoogle Scholar
  125. Maldonado, J. E., Gilchrist, G. S., Bridgen, L. P., and Bowie, E. J., 1975, Ultrastructure of platelets in Bernard-Soulier syndrome, Mayo Clin. Proc. 50: 402–406.PubMedGoogle Scholar
  126. Malmsten, C., Hamberg, M., Svensson, J., and Samuelsson, B., 1975, Physiological role of an endoperoxide in human platelets: Hemostatic defect due to platelet cyclo-oxygenase deficiency, Proc. Natl. Acad. Sci. USA 72: 1446–1450.PubMedGoogle Scholar
  127. Malmsten, C., Kindhal, H., Samuelsson, B., Levy-Toledano, S., Tobelem, G., and Caen, J. P., 1977, Thromboxane synthesis and the platelet release reaction in Bernard-Soulier syndrome, thrombasthenia Glanzmann and Hermansky-Pudlak syndrome, Br. J. Haematol. 35: 511–520.PubMedGoogle Scholar
  128. Maurer, H. M., Still, W. J., Caul, J., Valdes, O. S., and Laupus, W. E.,1971, Familial bleeding tendency associated with microcytic platelets and impaired release of platelet adenosine diphosphate, J. Pediatr. 78: 86–94.Google Scholar
  129. McGill, M., Jamieson, G. A, Drouin, J., Cho, M. S., and Rock, G. A., 1984, Morphometric analysis of platelets in Bernard-Soulier syndrome: Size and configuration in patients and carriers, Thromb. Haemostasis 52: 37–41.Google Scholar
  130. Melamed, I., Djaldetti, M., Joshua, H., and Seligsohn, U., 1984, Association of the hemophilia A carrier state and hemorrhagic thrombocytopathy with dilatation of the platelet membrane complex, Acta Haematol. 71: 381–387.PubMedGoogle Scholar
  131. Menard, M., and Meyers, K. M., 1988, Storage pool deficiency in cattle with the Chediak-Higashi syndrome results from an absence of dense granule precursors in their megacaryocytes, Blood 72: 1726–1734.PubMedGoogle Scholar
  132. Mestel, F., Oetliker, O., Beck, E., Felix, R., Imbach, P., and Wagner, H. P., 1980, Severe bleeding associated with defective thromboxane synthetase, Lancet 1: 157.PubMedGoogle Scholar
  133. Miletich, J. P., Kane, W. H., Hofman, S. L., Stanford, N., and Majerus, P. W., 1979, Deficiency of factor Xa-factor Va binding sites on the platelets of a patient with a bleeding disorder, Blood 54: 1015–1022.PubMedGoogle Scholar
  134. Milton, J. G., and Frojmovic, M. M., 1979a, Shape-changing agents produce abnormally large platelets in a hereditary “giant platelets syndrome (MPS),” J. Lab. Clin. Med. 93: 154–161.PubMedGoogle Scholar
  135. Milton, J. G., and Frojmovic, M. M., 1979b, Invaginated plasma membrane of human platelets: Evagination and measurement in normal and “giant” platelets. J. Lab. Clin. Med. 93: 162–170.PubMedGoogle Scholar
  136. Milton, J. G., Frojmovic, M. M., Tang, S. S., and White, J. G., 1984, Spontaneous platelet aggregation in a hereditary giant platelet syndrome (MPS), Am. J. Pathol. 114: 336–345.PubMedGoogle Scholar
  137. Minkes, M. S., Joist, J. H., and Needleman, P., 1979, Arachidonic acid-induced platelet aggregation independent of ADP-release in a patient with a bleeding disorder due to platelet storage pool disease, Thromb. Res. 15: 169–179.PubMedGoogle Scholar
  138. Minkoff, I. M., Wu, K. K., Walasek, J., Lightfoot, B., and Smith-McKearn, C., 1980, Bleeding disorder due to an isolated platelet factor 3 deficiency. Arch. Intern. Med. 140: 366–367.PubMedGoogle Scholar
  139. Moake, J. L., Olson, J. D., Troll, J. H., Tang, S. S., Funicella, T., and Peterson, D. M., 1980, Binding of radio-iodinated human von Willebrand factor to Bernard-Soulier, thrombasthenic and von Willebrand’s disease platelets, Thromb. Res. 19: 21–27.PubMedGoogle Scholar
  140. Montgomery, R. R., Kunicki, T. S., Taves, C., Pidard, D., and Corcoran, M., 1983, Diagnosis of Bernard-Soulier syndrome and Glanzmann’s thrombasthenia with a monoclonal assay on whole blood, J. Clin. Invest. 71: 385–389.PubMedGoogle Scholar
  141. Mori, K., Suzuki, S., and Sugai, K., 1984, Electron microscopic and functional studies on platelets in Gray platelet syndrome, Tohoku J. Exp. Med. 143: 261–287.PubMedGoogle Scholar
  142. Moroi, M., Jung, S. M., Okuma, M., and Shinmyozu, K., 1989, A patient with platelets deficient in Glycoprotein VI that lack both collagen-induced aggregation and adhesion, J. Clin. Invest. 84: 1440–1445.PubMedGoogle Scholar
  143. Murphy, S., 1972, Hereditary thrombocytopenia, Clin. Haematol. 1: 359–368.Google Scholar
  144. Murphy, S., Oski, F. A., Naiman, J. L., Lusch, C. J., Goldberg, S., and Gardner, F. H., 1972, Platelet size and kinetics in hereditary and acquired thrombocytopenia, N. Engl. J. Med. 286: 499–504.PubMedGoogle Scholar
  145. Mustard, J. F., Kinlough-Rathbone, R. E., Packham, M. A., Perry, D., Harfenist, E. J., and Pai, K. R. M., 1979, Comparison of fibrinogen association with normal and thrombasthenic platelets on exposure to ADP or chymotrypsine, Blood 54: 987–993.PubMedGoogle Scholar
  146. Nieuwenhuis, H. K., Akkerman, J. W. N., Houdijk, W. P. M., and Sixma, J. J., 1985, Human blood platelets showing no response to collagen fail to express surface glycoprotein Ia, Nature (London) 318: 470–472.Google Scholar
  147. Nieuwenhuis, H. K., Akkerman, J. W. N., and Sixma, J. J., 1987, Patients with a prolonged bleeding time and normal aggregation tests may have storage pool deficiency: Studies on one hundred six patients, Blood 70: 620–623.PubMedGoogle Scholar
  148. Novak, E. K., McGarry, M. P., and Swank, R. T., 1985, Correction of symptoms of platelet storage pool deficiency in animal models for Chediak-Higashi syndrome and Hermansky-Pudlak syndrome, Blood 66: 1196–1201.PubMedGoogle Scholar
  149. Novak, E. K., Sweet, H. O., Prochazka, M., Parentis, M., Soble, R., Reddington, M., Cairo, A., and Swank, R. T., 1988, Cocoa: A new mouse model for platelet storage pool deficiency, Br. J. Haematol. 69: 371–378.PubMedGoogle Scholar
  150. Nurden, A. T., and Caen, J. P., 1975a, An abnormal platelet glycoprotein pattern in three cases of Glanzmann’s thrombasthenia, Br. J. Haematol. 28: 253–260.Google Scholar
  151. Nurden, A. T., and Caen, J. P., 1975b, Specific roles for surface glycoproteins in platelet function, Nature (London) 255: 720–722.Google Scholar
  152. Nurden, A. T., Kunicki, T. J., Dupuis, D., Soria, C., and Caen, J. P., 1982, Specific protein and glycoprotein deficiencies in platelets isolated from two patients with the gray platelet syndrome, Blood 59: 709–718.PubMedGoogle Scholar
  153. Nurden, A. T., Didry, D., Kieffer, N., and McEver, R., 1985, Residual amounts of glycoproteins IIb and IIIa may be present in the platelets of most patients with Glanzmann’s thrombasthenia, Blood 65: 1021–1024.PubMedGoogle Scholar
  154. Nurden, A. T., Fournier, D., and Pidard, D., 1988, Pathological aspects of platelet aggregation. A consideration of the heterogeneity in Glanzmann’s thrombasthenia, in Biochemistry and Physiopathology of Platelet Membrane, Vol. 158 ( G. Marguerie and R. F. A. Zwaal, eds.), pp. 95–105, Colloque INSERM/J. Libbey Eurotex Ltd., Paris.Google Scholar
  155. Nyman, D., Eriksson, A. W., Lehmann, W., and Blomback, M., 1979, Inherited defective platelet aggregation with arachidonate as the main expression of a defective metabolism of arachidonic acid, Thromb. Res. 14: 739–746.PubMedGoogle Scholar
  156. Ochs, H. D., Slichter, S. J., Harker, L. A., von Behrens, W. E., Clark, R. A., and Wedgwood, R. J., 1980, The Wiskott-Aldrich syndrome: Studies of lymphocytes, granulocytes, and platelets, Blood 55: 243–252.PubMedGoogle Scholar
  157. Okita, J. R., Frojmovic, M., Kristopeit, S., Wong, T., and Kunicki, T. J., 1989, Montreal Platelet Syndrome: a defect in calcium-activated neutral proteinase (calpain), Blood 74: 715–721.PubMedGoogle Scholar
  158. Pareti, F. I., Day, H. J., and Mills, D. C. B., 1974, Nucleotide and serotonin metabolism in platelets with defective secondary aggregation, Blood 44: 789–800.PubMedGoogle Scholar
  159. Pareti, F. I., Mannucci, P. M., d’Angelo, A., Smith, J. B., Sautebin, L., and Galli, G., 1980, Congenital deficiency of thromboxane and protacyclin, Lancet 1: 898–901.PubMedGoogle Scholar
  160. Parkman, R., Remold-O’Donnell, E., Kenney, D. M., Perrin, S., and Rosen, F. S., 1981, Surface protein abnormalities in lymphocytes and platelets from patients with Wiskott-Aldrich syndrome, Lancet 11: 1387–1389.Google Scholar
  161. Parmley, R. T., Poon, M. C., Crist, W. M., Malluh, A., 1979, Giant platelet granules in a child with the Chediak-Higashi syndrome, Am. J. Hematol. 6: 51–60.PubMedGoogle Scholar
  162. Parsa, K. P., Lee, D. B., Zamboni, L., and Glassock, R. J., 1976, Hereditary nephritis, deafness and abnormal thrombopoiesis, Am. J. Med. 60: 665–672.PubMedGoogle Scholar
  163. Perret, B., Levy-Toledano, S., Plantavid, M., Bredoux, R., Chap, H., Tobelem, G., Douste-Blazy, L., and Caen, J. P., 1983, Abnormal phospholipid organization in Bernard-Soulier platelets, Thromb. Res. 31: 529–537.Google Scholar
  164. Peterson, L. C., Rao, K. V., Crosson, J. T., and White, J. G., 1985, Fechtner syndrome—a variant of Alport’s syndrome with leukocytes inclusions and macrothrombocytopenia, Blood 65: 397–406.PubMedGoogle Scholar
  165. Pfueller, S. L., and David, R., 1988, Platelet-associated immunoglobulins G, A and M are secreted during platelet activation: Normal levels but defective secretion in grey platelet syndrome, Br. J. Haematol. 68: 235–241.PubMedGoogle Scholar
  166. Pham Huu, T., Buriot, D., and Griscelli, C., 1980, Phagocytose des plaquettes autologues par les granulocytes dans la maladie de Chédiak-Higashi, Nouv. Rev. Fr. Hématol. 22: 59–62.Google Scholar
  167. Phillips, D. R., and Agin, P. P., 1977, Platelet membrane defects in Glanzmann’s thrombasthenia. Evidence for decreased amounts of two major glycoproteins. J. Clin. Invest. 60: 535–545.PubMedGoogle Scholar
  168. Pidard, D., Didry, D., Le Deist, F., Durandy, A., Griscelli, C., Bellucci, S., and Nurden, A. T., 1988, Analysis of the membrane glycoproteins of platelets in the Wiskott-Aldrich syndrome, Br. J. Haematol. 69: 529–535.PubMedGoogle Scholar
  169. Ponari, O., Civardi, E., Megha, A., Pini, M., Poti, R., and Dettori, A. G., 1977, Inherited platelet abnormalities associated with low factor VIII activity in the same family, Acta Haematol. 57: 225–232.PubMedGoogle Scholar
  170. Raccuglia, G., 1971, Gray platelet syndrome. A variety of qualitative platelet disorder, Am. J. Med. 51: 818–828.PubMedGoogle Scholar
  171. Rak, K., and Boda, Z., 1980, Hemostatic balance in congenital deficiency of platelet cyclooxygenase, Lancet 11: 44.Google Scholar
  172. Rao, A. K., Koike, K., Willis, J., Daniel, J. L., Beckett, C., Hassel, B., Day, H. J., Smith, J. B., and Holmsen, H., 1984, Platelet secretion defect associated with impaired liberation of arachidonic acid and normal myosin light chain phosphorylation, Blood 64: 914–921.PubMedGoogle Scholar
  173. Rao, A. K., Koike, K., Day, H. J., Smith, B., and Holmsen, H., 1985, Bleeding disorder associated with albumindependent partial deficiency in platelet thromboxane production, Am. J. Clin. Pathol. 83: 687–696.PubMedGoogle Scholar
  174. Rao, A. K., Kowalska, M. A., and Disa, J., 1989, Impaired cytoplasmic ionized calcium mobilization in inherited platelet secretion defects, Blood 74: 664–672.PubMedGoogle Scholar
  175. Rao, A. K., Willis, J., Kowalska, M. A., Wachtfogel, Y. T., and Colman, R. W., 1988, Differential requirements for platelet aggregation and inhibition of adenylate cyclase by epinephrine. Studies of a familial platelet alpha2-adrenergic receptor defect, Blood 71: 494–501.PubMedGoogle Scholar
  176. Reddington, M., Novak, E. K., Hurley, E., Medda, C., McGarry, M. P., and Swank, R. T., 1987, Immature dense granules in platelets from mice with platelet storage pool disease, Blood 69: 1300–1306.PubMedGoogle Scholar
  177. Rendu, F. and Viret, J., 1989, Etude membranaire structurale et fonctionnelle de plaquettes pathologiques, in Biomembranes and Nutrition, Vol. 195 ( C. L. Leger and G. Bereziat, eds.) pp. 401–410, Colloque INSERM, Paris.Google Scholar
  178. Rendu, F., Breton-Gorius, J., Trugnan, G., Castro-Malaspina, H., Andrieu, J. M., Bereziat, G., Lebret, M., and Caen, J. P., 1978, Studies on a new variant of the Hermansky-Pudlak syndrome: Qualitative ultrastructural and functional abnormalities of the platelet dense bodies associated with a phospholipase A defect, Am. J. Hematol. 4: 387–399.PubMedGoogle Scholar
  179. Rendu, F., Nurden, A. T., Lebret, M., and Caen, J. P., 1979, 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, Thromb. Haemostasis 42: 694–704.Google Scholar
  180. Rendu, F., Nurden, A. T., Lebret, M., and Caen, J. P., 1981, Further investigations on Bernard-Soulier platelet abnormalities. A study of 5-hydroxytryptamine uptake and mepacrine fluorescence, J. Lab. Clin. Med. 97: 689–699.PubMedGoogle Scholar
  181. Rendu, F., Breton-Gorius, J. Lebret, M., Klebanoff, C., Buriot, D., Griscelli, C., Levy-Toledano, S., and Caen, J. P., 1983, Evidence that abnormal platelet functions in human Chediak-Higashi syndrome are the result of a lack of dense bodies, Am. J. Pathol. 111: 307–314.PubMedGoogle Scholar
  182. Rendu, F., Marche, P., Viret, J., Daveloose, D., Leterrier, F., Levy-Toledano, S., and Caen, J. P., 1985, Molecular membrane organization in normal and pathological platelets: Changes in inositide metabolism and membrane fluidity, Nouv. Rev. Fr. Hématol. 27: 293–297.PubMedGoogle Scholar
  183. Rendu, F., Maclouf, J., Launay, J. M., Boinot, C., Levy-Toledano, S., Tanzer, J., and Caen, J. P., 1987a, Hermansky-Pudlak platelets: Further studies on release reaction and protein phosphorylations, Am. J. Hematol. 25: 165–174.PubMedGoogle Scholar
  184. Rendu, F., Marche, P., Hovig, T., Maclouf, J., Lebret, M., Tenza, D., Levy-Toledano, S., and Caen, J. P., 1987b, Abnormal phosphoinositide metabolism and protein phosphorylation in platelets from a patient with the grey platelet syndrome, Br. J. Haematol. 67: 199–206.PubMedGoogle Scholar
  185. Rendu, F., Marche, P., Viret, J., Maclouf, J., Lebret, M., Tenza, D., Caen, J. P., and Levy-Toledano, S., 1987c, Signal transduction in normal and pathological thrombin-stimulated platelets, Biochimie 69: 305–313.PubMedGoogle Scholar
  186. Rendu, F., Lebret, M., Danielian, S., Fagard, R., Levy-Toledano, S., and Fischer, S., 1989, High pp60c—src level in human platelet dense bodies, Blood 73: 1545–1551.PubMedGoogle Scholar
  187. Ricci, G., Manservigi, R., Albonici, L., Zavagli, G., and Cassai, E., 1985, Evidence for glycoprotein abnor- mality in platelets from patients with May-Hegglin anomaly, Thromb. Haemostasis 54: 862–865.Google Scholar
  188. Richard, J. G., and Da Prada, M., 1977, A new cytochemical technique for the localization of adenine nucleotides in organelles storing biogenic amines, J. Histochem. Cytochem. 25: 1322–1330.Google Scholar
  189. Rosa, J. P., George, J. N., Bainton, D., Nurden, A. T., Caen, J. P., and McEver, R. P., 1987, Gray platelet syndrome. Demonstration of alpha granule membranes that can fuse with the cell surface, J. Clin. Invest. 80: 1138–1146.PubMedGoogle Scholar
  190. Rosing, E. M., Bevers, P., Comfurius, P., Hemker, H. C., v Dieijen, G., Weiss, H. J., and Zwaal, R. F. A., 1985, Impaired factor X and prothrombin activation associated with decreased phospholipid exposure in platelets from a patient with a bleeding disorder, Blood 65: 1557–1561.PubMedGoogle Scholar
  191. Rosenstein, R., Zacharski, L. R., and Allen, R. D., 1981, Quantitation of human platelet transformation on siliconized glass: comparison of “normal” and “abnormal” platelets, Thromb. Haemostasis 46: 521–524.Google Scholar
  192. Roth, G. J., and Machuga, R., 1982, Radioimmune assay of human platelet prostaglandin synthetase, J. Lab. Clin. Med. 99: 187–196.PubMedGoogle Scholar
  193. Ruan, C., Tobelem, G., McMichael, A., Drouet, L., Legrand, Y., Degos, L., Kieffer, N., Lee, H., and Caen, J. P., 1981, Monoclonal antibody to human platelet glycoprotein I.11. Effects on human platelet function, Br. J. Haematol. 49: 511–519.PubMedGoogle Scholar
  194. Ruggeri, Z. M., Pareti, F. I., Mannucci, P. M., Ciavarella, N., and Zimmerman, T. S., 1981, Heightened interaction between platelets and factor VIII/von Willebrand factor in a new subtype of von Willebrand’s disease. N. Engl. J. Med. 302: 1047–1051.Google Scholar
  195. Russell, M. E., Seligsohn, U., Coller, B. S., Ginsberg, M. H., Skoglund, P., and Quertermous, T., 1988, Structural integrity of the glycoprotein IIb and IIIa genes in Glanzmann thrombasthenia patients from Israel, Blood 72: 1833–1836.PubMedGoogle Scholar
  196. Safrit, H. F., Weiss, H. J., and Philips, G. B., 1972, The phospholipid and fatty acid composition of platelets in patients with primary defects of platelet function, Lipids 7: 60–67.PubMedGoogle Scholar
  197. Samama, M., Lecrubier, C., Conard, J., Hotchen, M., Breton-Gorius, J., Vargaftig, B., Chignard, M., Lagarde, M., and Dechavanne, M., 1981, Constitutional thrombocytopathy with subnormal response to thromboxane a2, Br. J. Haematol. 48: 293–303.PubMedGoogle Scholar
  198. Scrutton, M. C., Clare, K. A., Hutton, R. A., and Bruckdorfer, K. R., 1981, Depressed responsiveness to adrenaline in platelets from apparently normal human donors: A familial trait, Br. J. Haematol. 49: 303–314.PubMedGoogle Scholar
  199. Seligsohn, U., Coller, B. S., Zivelin, A., Plow, E. F., and Ginsberg, M. H., 1989, Immunoblot analysis of platelet glycoprotein IIb in patients with Glanzmann thrombasthenia in Israel, Brit. J. Haematol. 72: 415–423.Google Scholar
  200. Shapiro, R. S., Gerrard, J. M., Perry, G. S., White, J. G., Krivit, W., and Kersey, J. H., 1987, Wiskott-Aldrich syndrome: Detection of carrier state by metabolic stress of platelets. Lancet 1: 121–123.Google Scholar
  201. Srivastava, P. C., Powling, M. J., Nokes, T. J. C., Patrick, A. D., Dawes, J., and Hardisty, R. M., 1987, Grey platelet syndrome: Studies on platelet alpha-granules, lysosomes and defective response to thrombin, Br. J. Haematol. 65: 441–446.PubMedGoogle Scholar
  202. Stormorken, H., Gogstad, G. O., Solum, N. O., and Pande, H., 1982, Diagnosis of heterozygotes in Glanzmann’s thrombasthenia, Thromb. Haemostasis 48: 217–221.Google Scholar
  203. Stormorken, H., Gogstad, G., and Solum, N.O., 1983, A new bleeding disorder: Lack of platelet aggregatory response to adrenaline and lack of secondary aggregation to ADP and platelet activating factor (PAF), Thromb. Res. 29: 391–402.PubMedGoogle Scholar
  204. Sultan, Y., Scrobohaci, M. L., Rendu, F., and Caen, J. P., 1972, Abnormal platelet function, population, and survival time in a boy with congenital absent radii and thrombocytopenia, Lancet 11: 653.Google Scholar
  205. Sultan, Y., Brouet, J. C., and Devergie, A., 1976, Letter: Isolated platelet factor 3 deficiency, N. Engl. J. Med. 294: 1121.PubMedGoogle Scholar
  206. Tamponi, G., Pannocchia, A., Arduino, C., Bazzan, M., Della Dora, N., Schinco, P., Buraglio, M., and Eandi, M., 1988, Congenital deficiency of alpha-2-adrenoreceptors on human platelets: Description of two cases, Thromb. Haemostasis 58: 1012–1016.Google Scholar
  207. Tobelem, G., Levy-Toledano, S., Bredoux, R., Michel, H., Nurden, A. T., and Caen, J. P., 1976, New approach to determination of specific functions of platelet membrane sites, Nature (London) 263: 427–428.Google Scholar
  208. Trung, P. H., Griscelli, C., and Mozziconacci, P., 1975, Ultrastructure des plaquettes sanguines dans le syndrome de Wiskott-Aldrich, Pathol. Biol. 23: 57–62.PubMedGoogle Scholar
  209. Tschopp, T. B., Weiss, H. J., and Baumgartner, H. R., 1975, Interaction of thrombasthenic platelets with subendothelium: Normal adhesion, absent aggregation, Experientia 31: 113–116.PubMedGoogle Scholar
  210. Waage, A., Siegel, J., Thorstensen, K., and Lamvik, J., 1986, Thrombotic thrombocytopenic purpura in 2 siblings: Defective platelet function and plasma factor deficiency occurring simultaneously, Scand. J. Haematol. 36: 55–57.PubMedGoogle Scholar
  211. Walsh, P. N., 1972, Platelet coagulant activities in thrombasthenia, Br. J. Haematol. 23: 553–569.PubMedGoogle Scholar
  212. Walsh, P. N., 1985, Platelet-mediated coagulant protein interactions in hemostasis, Semin. Hematol. 22: 178–186.Google Scholar
  213. Walsh, P. N., Mills, D. C. M., Pareti, F. I., Stewart, G. J., Macfarlane, D. E., Johnson, M. M., and Egan, J. J., 1975, Hereditary giant platelet syndrome: Absence of collagen-induced coagulant activity and deficiency of factor XI binding to platelets, Br. J. Haematol. 29: 639–655.PubMedGoogle Scholar
  214. Weiss, H. J., 1987, Platelet aggregation, adhesion and adenosine diphosphate release in thrombopathia (platelet factor 3 deficiency), Am. J. Med. 43: 570–578.Google Scholar
  215. Weiss, H. J., and Ames, R. P., 1973, Ultrastructural findings in storage-pool disease and aspirin-like defects of platelets, Am. J. Pathol. 71: 447–466.PubMedGoogle Scholar
  216. Weiss, H. J., and Lages, B., 1977, Possible congenital defect in platelet thromboxane synthetase, Lancet 1: 760–761PubMedGoogle Scholar
  217. Weiss, H. J., and Lages, B., 1981, Platelet malondialdehyde production and aggregation responses induced by arachidonate, prostaglandin-G2, collagen, and epinephrine in 12 patients with storage pool deficiency, Blood 58: 27–33.PubMedGoogle Scholar
  218. Weiss, H. J., and Lages, B., 1988, The response of platelets to epinephrine in storage pool deficiency. Evidence pertaining to the role of adenosine diphosphate in mediating primary and secondary aggregation, Blood 72: 1717–1725.PubMedGoogle Scholar
  219. Weiss, H. J., Chervenick, P. A., Zalusky, R., and Factor, A., 1969, A familial defect in platelet function associated with impaired release of adenosine diphosphate, N. Engl. J. Med. 281: 1264–1268.PubMedGoogle Scholar
  220. Weiss, H. J., Tschopp, T. B., Baumgartner, H. R., Sussman, I. I., Johnson, M. M., and Egan, J. J., 1974a, Decreased adhesion of giant (Bernard-Soulier) platelets to subendothelium: Further implications on the role of the von Willebrand factor in haemostasis, Am. J. Med. 57: 920–925.PubMedGoogle Scholar
  221. Weiss, H. J., Tschopp, T. B., Brand, H., and Rogers, J., 1974b, Studies of platelet 5-hydroxytryptamine (serotonin) in patients with storage pool disease and albinism, J. Clin. Invest. 54: 421–433.PubMedGoogle Scholar
  222. Weiss, H. J., Vicic, W. J., Lages, B. A., and Rogers, J., 1979a, Isolated deficiency of platelet procoagulant activity, Am. J. Med. 67: 206–213.PubMedGoogle Scholar
  223. Weiss, H. J., Witte, L. D., Kaplan, K. L., Lages, B. A., Chernoff, A., Nossel, H. L., Goodman, D. S., and aumgartner, H. S., 1979b, Heterogeneity in storage pool deficiency: Studies on granule-bound substances in 18 patients including variants deficient in a-granules, platelet factor-4, ß-thromboglobulin and platelet-derived growth factor, Blood 54: 1296–1319.PubMedGoogle Scholar
  224. Weiss, H. J., Meyer, D., Rabinowitz, R., Pietu, G., Girma, J. P., Vicic, W. J., and Rogers, J., 1982, Pseudo-von Willebrand’s disease, an intrinsic platelet defect with aggregation by a modified human factor VIII/ von Willebrand factor and enhanced adsorption of its high-molecular-weight multimers, N. Engl. J. Med. 306: 326–333.PubMedGoogle Scholar
  225. Weiss, H. J., Turitto, V. T., and Baumgartner, H. J., 1986, Platelet adhesion and thrombus formation on subendothelium in platelets deficient in glycoproteins IIb—lila, Ib, and storage granules, Blood 67: 322–330.PubMedGoogle Scholar
  226. White, J. G., 1979, Ultrastructural studies of the gray platelet syndrome, Am. J. Pathol. 95: 445–462.PubMedGoogle Scholar
  227. White, J. G., and Gerrard, J. M., 1976, Ultrastructural features of abnormal blood platelets. A review, Am. J. Hematol. 83: 589–632.Google Scholar
  228. White, J. G., and Sauk, J. J., 1984, The organization of microtubules and microtubule coils in giant platelet disorders, Am. J. Pathol. 116: 514–522.PubMedGoogle Scholar
  229. White, J. G., Edson, J. R., Desnick, S. J., and Witkop, C. J., 1971, Studies of platelets in a variant of the Hermansky-Pudlak syndrome, Am. J. Pathol. 63: 319–332.PubMedGoogle Scholar
  230. White, G. C., Workman, E. F., and Lundblad, R. L., 1978, Thrombin binding to thrombasthenic platelets, J. Lab. Clin. Med. 91: 76–82.PubMedGoogle Scholar
  231. White, J. G., Burris, S. M., Hasegawa, D., and Jonhson, M., 1984, Micropipette aspiration of human blood platelets: A defect in Bernard-Soulier’s syndrome, Blood 63: 1249–1252.PubMedGoogle Scholar
  232. Witkop, C. J., White, J. G., Gerritsen, S. M., Townsend, de W., and King, R. A., 1973, Hermansky-Pudlak syndrome (HPS): A proposed block in glutathione peroxidase, Oral Surg. 35: 790–806.PubMedGoogle Scholar
  233. Witkop, C. J., Krumwiede, M., Sedano, H., and White, J. G., 1987, Reliability of absent platelet dense bodies as a diagnostic criterion or Hermansky-Pudlak syndrome, Am. J. Hematol. 26: 305–311.PubMedGoogle Scholar
  234. Wu, K. K., Minkoff, I. M., Rossi, E. C., and Chen, Y. C., 1981a, Hereditary bleeding disorder due to a primary defect in platelet release reaction, Br. J. Haematol. 47: 241–249.PubMedGoogle Scholar
  235. Wu, K. K., le Breton, G. C., Tai, H. H., and Chen, Y. C., 1981b, Abnormal platelet response to thromboxane A2, J. Clin. Invest. 67: 1801–1804.PubMedGoogle Scholar
  236. Zahavi, J., Gale, R., and Kakkar, V. V., 1981, Storage pool disease of platelets in an infant with thrombocytopenic absent radii (TAR) syndrome simulating Fanconi’s anaemia, Haemostasis 10: 121–133.PubMedGoogle Scholar
  237. Zucker, M. B., and Hilgartner, W. W., 1966, Platelet function in a patient with thrombasthenia, Blood 28: 524–534.PubMedGoogle Scholar
  238. Zwall, R. F. A., and Hemker, H. C., 1982, Blood cell membranes and haemostasis, Haemostasis 11: 12–39.Google Scholar

Copyright information

© Springer Science+Business Media New York 1991

Authors and Affiliations

  • Francine Rendu
    • 1
  • Evelyne Dupuy
    • 1
  1. 1.Hospital LariboisièreUnité 150 INSERMParisFrance

Personalised recommendations