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Original Article

Platelet pathology in carriers of the X-linked GATA-1 macrothrombocytopenia

Pages 620-627 | Received 19 Aug 2007, Accepted 04 Sep 2007, Published online: 07 Jul 2009

References

  • Thompson AR, Wood WG, Stamatoyannopoulous G. X-linked syndrome of platelet dysfunction, thrombocytopenia and imbalanced globin chain synthesis with hemolysis. Blood 1977; 50: 303–316
  • Pevny L, Simon MC, Robertson E, Klein WH, Tsai SF, D’Agati V, Orkin SH, Costantini F. Erythroid differentiation in chimaeric mice blocked by a targeted mutation in the gene for transcription factor GATA-1. Nature 1931; 349: 257–260
  • Weiss MJ, Keller G, Orkin SH. Novel insights into erythroid development revealed through in vitro differentiation of GATA-1 embroyonic stem cells. Genes Dev 1994; 8: 1184–1197
  • Nichols KE, Crispino JD, Poncz M, White JG, Orkin SH, Maris JM, Weiss MJ. Familial dyserythrpoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1. Nat Genet 2000; 24: 266–270
  • Phillips JD, Steensma DP, Spangrude GJ, Kushner JP. Congenital erythropoietic porphyria, Bthalassemia intermedia and thrombocytopenia due to a GATA-1 mutation. Blood 2005; 106: 15a
  • Freson K, Devriendt K, Matthijs G, Van Hoof A, De Vos R, Thys C, Minner K, Hoylaerts M, Vermylen J, Van Geet C. Platelet characteristics in patients with X-linked macrothrombocytopenia because of a novel GATA-1 mutation. Blood 2001; 98: 85–92
  • Freson K, Matthijs G, Thys C, Marien P, Hoylaerts M, Vermylen J, Van Geet C. Different substitutions at reside 218 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
  • Shivdasani RA, Fujiwara Y, McDevitt MA, Orkin SH. A lineage-selective knockout establishes the critical role of transcription factor of GATA-1 in megakaryocyte growth and platelet development. Embo J 1997; 16: 3965–3973
  • Mehaffey MG, Newton EL, Ghandi MJ, Crossley M, Drachman JG. X-linked thrombocytopenia caused by a novel mutation of GATA-1. Blood 2001; 98: 2681–2688
  • Vyas P, Ault K, Jackson CW, Orkin SH, Shivdasani RA. Consequences of GATA-1 deficiency in megakaryocytes and platelets. Blood 1999; 93: 2867–2875
  • White JG, Nichols WL, Steensma DP. Platelet pathology in X-linked GATA-1 dyperythropoietic macrothrombocytopenia I Ultrastructure. Platelets 2007; 18: 273–283
  • White JG, Nicholson WL, Steensma DP. Platelet pathology in X-linked GATA-1 dyperythopoietic macrothrombocytopenia II Cytochemistry. Platelets 2007; 18: 436–450
  • White JG. The morphology of platelet function. Methods in haematology 8L: Measurement of platelet function, LA Harker, TS Zimmerman. Churchill-Livingstone, New York 1983; 1–25
  • Witkop CJ, Krumwiede M, Sedano HO, White JG. The reliability of absent platelet dense bodies as a diagnostic criterion for Hermansky-Pudlak syndrome. Am J Hematol 1987; 26: 305–311
  • White JG, Krumwiede MD, Cocking-Johnson D, Escolar G. Induction of GPIb/IX-vWR receptor-ligand translocation on surface-activated platelets. Arterios Thrombos Vasc Biol 1995; 15: 642–654
  • White JG, Krumwiede MD, Johnson DK, Escolar G. Redistribution of GPIb/IX and GPIIb/IIIa during spreading of discoid platelets. Br J Haematol 1995; 90: 633–644
  • White JG, Krumwiede MD, Johnson DK, Escolar G. Localization of GPIb/IX and GPIIb/IIIa on discoid platelets. Platelets 1995; 6: 233–241
  • Balduini CL, Pecci A, Loffredo G, Iyyo P, Noris P, Grosso M, Bergamaschi G, Rosti V, Magrini U, Ceresa IF. Effects of the R216 Q mutation of GATA-1 on erythropoiesis and megakaryocytopoiesis. Blood 2004; 91: 129–140
  • White JG. Medich Giant Platelet Disorder: A unique α-granule deficiency. 1. Structural abnormalities. Platelets 2004; 15: 345–353
  • Raccuglia G. Gray platelet syndrome: A variety of qualitative platelet disorders. Am J Med 1971; 51: 818–828
  • White JG. Ultrastructural studies of the gray platelet syndrome. Am J Pathol 1979; 95: 445–462
  • White JG, Key NS, King RA, Vercellotti GM. The white platelet syndrome: A new autosomal dominant platelet disorder. 1. Structural abnormalities. Platelets 2004; 15: 173–184
  • Omundarson PT, Burgisdottir ER, Brogadottir G, Hilmarsdottir B, Gudmunsdottir BR, Vidarsson B, Magnusson MK. Bernard Soutier Syndrome in Iceland. Bleeding symptoms and platelet parameters in patient carriers and controls. Blood 2006; 108: 326A
  • Tubman NV, Levine JE, Campagna DR, Monahan-Early R, Dvorak AM, Nenfeld EJ, Flemming MD. X-linked Gray Platelet Syndrome due to a GATA-1 Arg216 Gln mutation. Blood 2007; 109: 3297–3300

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