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Giant platelet syndrome  

Kook, Hoon (Department of Pediatrics, Chonnam National University Medical School)
Publication Information
Clinical and Experimental Pediatrics / v.49, no.8, 2006 , pp. 833-838 More about this Journal
Abstract
Giant platelet syndrome is a group of unique disorders characterized by the presence of abnormally large platelets, and usually accompanied by thrombocytopenia. Most cases of giant platelets are encountered in idiopathic thrombocytopenic purpura(ITP). In contrast, inherited giant platelet disorders, a group of heterogeneous diseases, are rare. Bernard-Soulier syndrome and its variants, and MYH9 related diseases have been defined at the molecular level. Abnormalities in transcription factors are implicated in a couple of macrothrombocytopenia syndromes. However, the molecular defects are unknown in gray platelet syndrome. It is important to make a proper diagnosis of congenital macrothrombocytopenia to avoid unnecessary medications and potentially dangerous treatment for presumed ITP.
Keywords
Giant platelet syndrome; Idiopathic thrombocytopenia purpura; Macrothrombocytopenia;
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1 Balduni CL, Iolascon A, Savoia A. Inherited thrombocytopenia : from genes to therapy. Hematologica 2002;87:860-80
2 Hartwig J, Italiano J Jr. The birth of the platelet. J Thromb Haemost 2003;1:1580-6   DOI   ScienceOn
3 Saito H, Matsushita T, Yamamoto K, Kojima T, Kunishima S. Giant platelet syndrome. Hematology 2005;10: Suppl 1:41-6   DOI   ScienceOn
4 Rao AK. Congenital disorders of platelet secretion and signal transduction. In : Colman RW, Hirsch J, Marder VJ, Clowes A, Goerge JN, eds. Haemostasis and Thrombosis : Basic Principles and Clinical Practice. Philadelphia : J.B. Lippincott, 2001:890-904
5 Droulin A, Favier R, Masse JM, Debili N, Schmitt A, Elbim C, et al. Newly recognized cellular abnormalities in the gray platelet syndrome. Blood 2001;98:1382-91   DOI   ScienceOn
6 Wylie SR, Chantler PD. Separate but linked functions of conventional myosins modulate adhesion and neurite outgrowth. Nat Cell Biol 2001;3:88-92   DOI   ScienceOn
7 Locatelli F, Rossi G, Balduni C. Haematopoietic stem cell transplantation for the Bernard-Soulier syndrome. Ann Intern Med 2003;138:79
8 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 disorder: Association of subcellular localization with MYH9 mutation. Lab Invest 2003;83:115-22   DOI
9 Lopez JA, Andrews RK, Afshar-Kharghan V, Berndt MC. Bernard-Soulier syndrome. Blood 1998;91:4397-418
10 Matsushita T, Hayashi H, Kunishima S, Hayashi M, Ikejiri M, Takeshita K, et al. Targeted disruption of mouse ortholog of the human MYH9 reponsible for macrothrombocytopenia with different organ involvement : hematological, nephrological, and otological studies of heterozygous KO mice. Biochem Biophys Res Commun 2004;325:1163-71   DOI   ScienceOn
11 Villa A, Notarangelo L, Macchi P, Mantuano E, Cavagni G, Brugnoni D, et al. X-linked thrombocytopenia and Wiscott- Aldrich syndrome are allelic diseases with mutations in the WASP gene. Nat Genet 1995;9:414-7   DOI   ScienceOn
12 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:S55-68   DOI
13 Rao AK, Jalagadugula G, Sun L. Inherited defects in platelet signaling mechanisms. Semin Thromb Haemost 2004; 30:525-35   DOI   ScienceOn
14 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;10:704-14
15 Dowton SB, Beardsley D, Jamison D, Blattner S, Li FP. Studies of a familial platelet disorder. Blood 1985;65:557-63
16 Seri M, Cusano R, Gangarossa S, Caridi G, Bordo D, Lo Nigro C, et al. Mutation in MYH9 result in the May- Hegglin anomaly, and Fechtner and Sebastian syndrome. The May-Hegglin/Fechtner Syndrome Consortium. Nat Genet 2000;26:103-5   DOI   ScienceOn
17 Baek HJ, Kook H, Song ES, Kim SY, Kim HJ, Lee JS, et al. MYH-related disorder in a family-Autosomal dominant Epstein giant platelet syndrome. Korean J Pediatr Hematol Oncol 2003;10:99-104
18 Dong F, Li S, Pujol-Moix N, Luban NLC, Shin SW, Seo JH, et al. Genotype-phenotypecorrelation in MYH9-related thrombocytopenia. Br J Haematol 2005;130:620-7   DOI   ScienceOn
19 Nichols KE, Crispino JD, Poncz M, White JG, Orkin SH, Maris JM. Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1. Nat Genet 2000;24:266-70   DOI   ScienceOn
20 Hayward CPM, Rao AK, Cattaneo M. Congenital platelet disorders : overview of their mechanism, diagnostic evaluation and treatment. Hemophilia 2006;12(Suppl 3):128-36
21 Kook H, Nam HS, Baek HJ, Kim YO, Eom KH, Kee HJ, et al. Clinical characteristics of autosomal dominant giant platelet syndromes and mutation analysis of MYH9. Korean J Hematol 2006;41:16-27   DOI
22 Mhawech P, Saleem A. Inherited giant platelet disorders. Classification and literature review. Am J Clin Pathol 2000; 113:176-90   DOI   ScienceOn
23 Drachman JG. Inherited thrombocytopenia : when a low platelet count does not mean ITP. Blood 2004;103:390-8   DOI   ScienceOn
24 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;69:1033-45   DOI   ScienceOn
25 Savoia A, Balduni 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;97:1330-5   DOI   ScienceOn
26 Raslova H, Komura E, Le Couedie JP, Larbret F, Debili N, Feunteun J, et al. FLI1 monoallelic expression combined with its hemizygous loss underlies Paris-Trousseau/Jacobsen thrombocytopenia. J Clin Invest 2004;114:77-84   DOI