Blood Reviews
Volume 20, Issue 2 , Pages 111-121 , March 2006

Congenital macrothrombocytopenias

References 

  1. Balduini CL, Iolascon A, Savoia A. Inherited thrombocytopenias: from genes to therapy. Haematologica. 2002;87:860–880
  2. Balduini CL, Savoia A. Inherited thrombocytopenias: molecular mechanisms. Semin Thromb Hemost. 2004;30:513–523
  3. Cattaneo M. Inherited platelet-based bleeding disorders. J Thromb Haemost. 2003;1:1628–1636
  4. Drachman JG. Inherited thrombocytopenia: when a low platelet count does not mean ITP. Blood. 2004;103:390–398
  5. Geddis AE, Kaushansky K. Inherited thrombocytopenias: toward a molecular understanding of disorders of platelet production. Curr Opin Pediatr. 2004;16:15–22
  6. Heath KE, Campos-Barros A, Toren A, Rozenfeld-Granot G, Carlsson LE, Savige J, et al. Nonmuscle myosin heavy chain IIa mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes. Am J Hum Genet. 2001;69:1033–1045
  7. Kunishima S, Matsushita T, Kojima T, Amemiya N, Choi YM, Hosaka N, et al. Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions. J Hum Genet. 2001;46:722–729
  8. Seri M, Pecci A, Di Bari F, Cusano R, Savino M, Panza E, et al. MYH9-related disease. May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness. Medicine. 2003;82:203–215
  9. Kunishima S, Matsushita T, Yoshihara T, Nakase Y, Yokoi K, Hamaguchi M, et al. First description of somatic mosaicism in MYH9 disorders. Br J Haematol. 2005;128:360–365
  10. May R. Leukozyteneinschlusse. Dtsch Arch Klin Med. 1909;96:1–6
  11. Hegglin R. Gleichzeitige konstitutionelle Veranderungen an Neutrophilen und Thrombocyten. Helv Med Acta. 1945;12:439–440
  12. Greinacher A, Nieuwenhuis HK, White JG. Sebastian platelet syndrome: a new variant of hereditary macrothrombocytopenia with leukocyte inclusions. Blut. 1990;61:282–288
  13. Peterson LC, Rao KV, Crosson JT, White JG. Fechtner syndrome- a variant of Alport’s syndrome with leukocyte inclusions and macrothrombocytopenia. Blood. 1985;65:397–406
  14. Epstein CJ, Sahud MA, Piel CF, Goodman JR, Bernfield MR, Kushner JH, et al. Hereditary macrothrombocytopathia, nephritis and deafness. Am J Med. 1972;52:299–310
  15. Greinacher A, Mueller-Eckhardt C. Hereditary types of thrombocytopenia with giant platelets and inclusion bodies in the leukocytes. Blut. 1990;60:53–60
  16. The May-Hegglin/Fechtner Syndrome Consortium. Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. Nat Genet 2000;26:103-105.
  17. Kelley MJ, Jawien W, Ortel TL, Korczak JF. Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly. Nat Genet. 2000;26:106–108
  18. Kunishima S, Kojima T, Matsushita T, Tanaka T, Tsurusawa M, Furukawa Y, et al. Mutations in the NMMHC-A gene cause autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly/Sebastian syndrome. Blood. 2001;97:1147–1149
  19. Hartwig J, Italiano J. The birth of the platelet. J Thromb Haemost. 2003;1:1580–1586
  20. Rocca B, Laghi F, Zini G, Maggiano N, Landolfi R. Fechtner syndrome: report of a third family and literature review. Br J Haematol. 1993;85:423–426
  21. Ghiggeri GM, Caridi G, Magrini U, Sessa A, Savoia A, Seri M, et al. Genetics, clinical and pathological features of glomerulonephritis associated with mutations of nonmuscle myosin IIA (Fechtner syndrome. Am J Kidney Dis. 2003;41:95–104
  22. Noris P, Spedini P, Belletti S, Magrini U, Balduini CL. Thrombocytopenia, giant platelets, and leukocyte inclusion bodies (May-Hegglin anomaly): clinical and laboratory findings. Am J Med. 1998;104:355–360
  23. Bader-Meunier B, Proulle V, Trichet C, Debray D, Gabolde M, Yvart J, et al. Misdiagnosis of chronic thrombocytopenia in childhood. J Pediatr Hematol Oncol. 2003;25:548–552
  24. Yoshinari M, Kunishima S, Miyabayashi S, Saito H, Tsuchiya S. A unique immunofluorescence method promotes accurate diagnosis in MYH9 disorders: a case report. J Pediatr Hematol Oncol. 2004;26:579–583
  25. Kunishima S, Matsushita T, Kojima T, Sako M, Kimura F, Jo EK, et al. Immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A in MYH9 disorders: Association of subcellular localization with MYH9 mutations. Lab Invest. 2003;83:115–122
  26. Kunishima S, Matsushita T, Shiratsuchi M, Ikuta T, Nishimura J, Hamaguchi M, et al. Detection of unique neutrophil non-muscle myosin heavy chain-A localization by immunofluorescence analysis in MYH9 disorder presented with macrothrombocytopenia without leukocyte inclusions and deafness. Eur J Haematol. 2005;74:1–5
  27. Bernard J, Soulier JP. Sur une nouvelle variete de dystrophie thrombocytaire-hemorragipare congenitale. Sem Hop Paris. 1948;24:3217–3223
  28. Hourdille P, Pico M, Jandrot-Perrus M, Lacaze D, Lozano M, Nurden AT. Studies on the megakaryocytes of a patient with the Bernard-Soulier syndrome. Br J Haematol. 1990;76:521–530
  29. Ware J, Russell S, Ruggeri ZM. Generation and rescue of a murine model of platelet dysfunction: the Bernard-Soulier syndrome. Proc Natl Acad Sci U S A. 2000;97:2803–2808
  30. Cunningham JG, Meyer SC, Fox JE. The cytoplasmic domain of the α -subunit of glycoprotein (GP) Ib mediates attachment of the entire GP Ib-IX complex to the cytoskeleton and regulates von Willebrand factor-induced changes in cell morphology. J Biol Chem. 1996;271:11581–11587
  31. Lopez JA, Andrews RK, Afshar-Kharghan V, Berndt MC. Bernard-Soulier syndrome. Blood. 1998;91:4397–4418
  32. Kunishima S, Kamiya T, Saito H. Genetic abnormalities of Bernard-Soulier syndrome. Int J Hematol. 2002;76:319–327
  33. Donner M, Karpman D, Kristoffersson AC, Winqvist I, Holmberg L. Recurrent mutation Asn45–>Ser of glycoprotein IX in Bernard-Soulier syndrome. Eur J Haematol. 1996;57:178–179
  34. Iwanaga M, Kunishima S, Ikeda S, Tomonaga M, Naoe T. Vulnerable mutation Trp126–>stop of glycoprotein IX in Japanese Bernard-Soulier syndrome. Eur J Haematol. 1998;60:264–266
  35. Koskela S, Javela K, Jouppila J, Juvonen E, Nyblom O, Partanen J, et al. Variant Bernard-Soulier syndrome due to homozygous Asn45Ser mutation in the platelet glycoprotein (GP) IX in seven patients of five unrelated Finnish families. Eur J Haematol. 1999;62:256–264
  36. Vanhoorelbeke K, Schlammadinger A, Delville JP, Handsaeme J, Vandecasteele G, Vauterin S, et al. Occurrence of the Asn45Ser mutation in the GPIX gene in a Belgian patient with Bernard Soulier syndrome. Platelets. 2001;12:114–120
  37. Savoia A, Balduini CL, Savino M, Noris P, Del Vecchio M, Perrotta S, et al. Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome. Blood. 2001;97:1330–1335
  38. Toyohama T, Nagasaki A, Gushi K, Tamaki K, Masuda M, Takasu N. Recurrent mutation Trp126stop of glycoprotein IX in Japanese Bernard-Soulier syndrome. Platelets. 2003;14:197–198
  39. Sachs UJ, Kroll H, Matzdorff AC, Berghofer H, Lopez JA, Santoso S. Bernard-Soulier syndrome due to the homozygous Asn-45Ser mutation in GPIX: an unexpected, frequent finding in Germany. Br J Haematol. 2003;123:127–131
  40. Kuijpers RW, Ouwehand WH, Bleeker PM, Christie D, von dem Borne AE. Localization of the platelet-specific HPA-2 (Ko) alloantigens on the N-terminal globular fragment of platelet glycoprotein Ib alpha. Blood. 1992;79:283–288
  41. Kunishima S, Lopez JA, Kobayashi S, Imai N, Kamiya T, Saito H, et al. Missense mutations of the glycoprotein (GP) Ibβ gene impairing the GPIb α /β disulfide linkage in a family with giant platelet disorder. Blood. 1997;89:2404–2412
  42. Kunishima S, Naoe T, Kamiya T, Saito H. Novel heterozygous missense mutation in the platelet glycoprotein Ibβ gene associated with isolated giant platelet disorder. Am J Hematol. 2001;68:249–255
  43. Miller JL, Cunningham D, Lyle VA, Finch CN. Mutation in the gene encoding theα chain of platelet glycoprotein Ib in platelet-type von Willebrand disease. Proc Natl Acad Sci U S A. 1991;88:4761–4765
  44. Russell SD, Roth GJ. Pseudo-von Willebrand disease: a mutation in the platelet glycoprotein Ibα gene associated with a hyperactive surface receptor. Blood. 1993;81:1787–1791
  45. Kunishima S, Heaton DC, Naoe T, Hickton C, Mizuno S, Saito H, et al. De novo mutation of the platelet glycoprotein Ibα gene in a patient with pseudo-von Willebrand disease. Blood Coagul Fibrinolysis. 1997;8:311–315
  46. Behrens WE. Mediterranean macrothrombocytopenia. Blood. 1975;46:199–208
  47. Najean Y, Lecompte T. Genetic thrombocytopenia with autosomal dominant transmission: a review of 54 cases. Br J Haematol. 1990;74:203–208
  48. Van Geet C, Devriendt K, Eyskens B, Vermylen J, Hoylaerts MF. Velocardiofacial syndrome patients with a heterozygous chromosome 22q11 deletion have giant platelets. Pediatr Res. 1998;44:607–611
  49. Pallotta R, Evangelista V, Margaglione M, Bucci I, Saponari A. Macrothrombocytopenia in velocardiofacial syndrome. J Thromb Haemost. 2005;3:601–603
  50. Raccuglia G. Gray platelet syndrome: a variety of qualitative platelet disorders. Am J Med. 1971;51:818–828
  51. Kohler M, Hellstern P, Morgenstern E, Mueller-Eckhardt C, Berberich R, Meiser RJ, et al. Gray platelet syndrome: selective alpha-granule deficiency and thrombocytopenia due to increased platelet turnover. Blut. 1985;50:331–340
  52. Schmitt A, Jouault H, Guichard J, Wendling F, Drouin A, Cramer EM. Pathologic interaction between megakaryocytes and polymorphonuclear leukocytes in myelofibrosis. Blood. 2000;96:1342–1347
  53. Nichols KE, Crispino JD, Poncz M, White JG, Orkin SH, Maris JM, et al. Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1. Nat Genet. 2000;24:266–270
  54. Freson K, Devriendt K, Matthijs G, Van Hoof A, De Vos R, Thys C, et al. Platelet characteristics in patients with X-linked macrothrombocytopenia because of a novel GATA1 mutation. Blood. 2001;98:85–92
  55. Freson K, Matthijs G, Thys C, Marien P, Hoylaerts MF, Vermylen J, et al. Different substitutions at residue D218 of the X-linked transcription factor GATA1 lead to altered clinical severity of macrothrombocytopenia and anemia and are associated with variable skewed X inactivation. Hum Mol Genet. 2002;11:147–152
  56. Mehaffey MG, Newton AL, Gandhi MJ, Crossley M, Drachman JG. X-linked thrombocytopenia caused by a novel mutation of GATA-1. Blood. 2001;98:2681–2688
  57. Shivdasani RA. Molecular and transcriptional regulation of megakaryocyte differentiation. Stem Cells. 2001;19:397–407
  58. Derry JM, Kerns JA, Weinberg KI, Ochs HD, Volpini V, Estivill X, et al. WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia. Hum Mol Genet. 1995;4:1127–1135
  59. Villa A, Notarangelo L, Macchi P, Mantuano E, Cavagni G, Brugnoni D, et al. X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene. Nat Genet. 1995;9:414–417
  60. Breton-Gorius J, Favier R, Guichard J, Cherif D, Berger R, Debili N, et al. A new congenital dysmegakaryopoietic thrombocytopenia (Paris-Trousseau) associated with giant platelet α -granules and chromosome 11 deletion at 11q23. Blood. 1995;85:1805–1814
  61. Krishnamurti L, Neglia JP, Nagarajan R, Berry SA, Lohr J, Hirsch B, et al. Paris-Trousseau syndrome platelets in a child with Jacobsen’s syndrome. Am J Hematol. 2001;66:295–299
  62. Raslova H, Komura E, Le Couedic JP, Larbret F, Debili N, Feunteun J, et al. FLI1 monoallelic expression combined with its hemizygous loss underlies Paris-Trousseau/Jacobsen thrombopenia. J Clin Invest. 2004;114:77–84
  63. Moll S, Lazarowski AR, White 2nd GC. Giant platelet disorder in a patient with type 2B von Willebrand’s disease. Am J Hematol. 1998;57:62–67
  64. Nurden P, Chretien F, Poujol C, Winckler J, Borel-Derlon A, Nurden A. Platelet untrastructural abnormalities in three patients with type 2B von Willebrand disease. Br J Haematol. 2000;110:704–714
  65. Greinacher A, Potzsch B, Kiefel V, White JG, Muller-Berghaus G, Mueller-Eckhardt C. Evidence that DDAVP transiently improves hemostasis in Bernard-Soulier syndrome independent of von Willebrand-factor. Ann Hematol. 1993;67:149–150
  66. Poon MC, d’Oiron R. Recombinant activated factor VII (NovoSeven) treatment of platelet-related bleeding disorders. International Registry on Recombinant Factor VIIa and Congenital Platelet Disorders Group. Blood Coagul Fibrinolysis. 2000;11(Suppl 1):55–68
  67. Fujimoto TT, Kishimoto M, Ide K, Mizushima M, Mita M, Sezaki N, et al. Glanzmann thrombasthenia with acute myeloid leukemia successfully treated by bone marrow transplantation. Int J Hematol. 2005;81:77–80
  68. Locatelli F, Rossi G, Balduini C. Hematopoietic stem-cell transplantation for the Bernard-Soulier syndrome. Ann Intern Med. 2003;138:79
  69. Pecci A, Noris P, Invernizzi R, Savoia A, Seri M, Ghiggeri GM, et al. Immunocytochemistry for the heavy chain of the non-muscle myosin IIA as a diagnostic tool for MYH9-related disorders. Br J Haematol. 2002;117:164–167

PII: S0268-960X(05)00041-X

doi: 10.1016/j.blre.2005.08.001

Blood Reviews
Volume 20, Issue 2 , Pages 111-121 , March 2006