Platelet structural pathology in a patient with the X-linked GATA-1, R216Q mutation

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
   PubMed Web of Science ®Google Scholar
• 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
   Web of Science ®Google Scholar
• Weiss MJ, Keller G, Orkin SH. Novel insights into erythroid development revealed through in vitro differentiation of GATA-1 embryonic stem cells. Genes Dev 1994; 8: 1184–1197
   PubMed Web of Science ®Google Scholar
• Nichols KE, Crispino JD, Poncz M, White JG, Orkin SH, Maris JM, Weiss MJ. Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA-1. Nat Genet 2000; 24: 266–270
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• Freson K, Matthijs G, Thys C, Marien P, Hoylaerts M, Vermylen J, Van Geet C. Different substitutions at residue D218 of the X-linked transcription factor GATA-1 lead to altered clinical severity of macrothrombocytopenia and anemia and are associated with variable skewed X inactivation. Hum Mol Genet 2002; 11: 147–152
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• Vyas P, Ault K, Jackson CW, Orkin SH, Shivdasani RA. Consequences of GATA-1 deficiency in megakaryocytes and platelets. Blood 1999; 93: 2867–2875
   PubMed Web of Science ®Google Scholar
• Phillips JD, Steensma DP, Spangrude GJ, Kushner JP. Congenital erythropoietic porphyria, B thalassemia intermedia and thrombocytopenia due to a GATA-1 mutation. Blood 2005; 106: 15a
   Web of Science ®Google Scholar
• Balduini CL, Pecci A, Loffredo G, Iyyo P, Noris P, Grosso M, Bergamaschi G, Rosti V, Magrini U, Ceresa IF, et al. Effects of the R216Q mutation of GATA-1 on erythropoiesis and megakaryocytopoiesis. Blood 2004; 91: 129–140
   Google Scholar
• White JG, Nichols WL, Steensma DP. Platelet pathology in X-linked GATA-1 dyperythropoietic macrothrombocytopenia I ultrastructure. Platelets 2007; 18: 273–283
   PubMed Web of Science ®Google Scholar
• White JG, Nicholson WL, Steensura DP. Platelet pathology in X-linked GATA-1 dyperythropoietic macrothrombocytopenia II cytochemistry. Platelets 2007; 18: 436–450
   PubMed Web of Science ®Google Scholar
• White JG. Platelet pathology in carriers of the X-linked GATA-1 macrothrombocytopenia. Platelets 2007; 18: 620–627
   PubMed Web of Science ®Google Scholar
• Hughan SC, Senis S, Best D, Thomas A, Frampton J, Vyras P, Watson S. Selective impairment of platelet activation to collagen in the absence of GATA-1. Blood 2005; 105: 4369–4376
   PubMed Web of Science ®Google Scholar
• White JG. Fine structural alterations induced in platelets by adenosine diphosphate. Blood 1968; 31: 604–622
   PubMed Web of Science ®Google Scholar
• White JG. The morphology of platelet function, LA Harker, TS Zimmerman. Churchill-Livingstone, New York 1983; 1–25
   Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• White JG, Krumwiede MD, Cockingjohnson D, Escolar G. Induction of GPIb/IX-vWR receptor–ligand translocation on surface-activated platelets. Arterios Thrombos Vasc Biol 1995; 15: 642–654
   PubMed Web of Science ®Google Scholar
• White JG, Krumwiede MD, Johnson DK, Escolar G. Redistribution of GPIb/IXand GPIIb/IIIa during spreading of discoid platelets. Br J Haematol 1995; 90: 633–644
   PubMed Web of Science ®Google Scholar
• White JG, Nicholson WL, Steensma DP. Platelet pathology in X-linked GATA-1 dyperythropoietic macrothrombocytopenia II Cytochemistry. Platelets 2007; 18: 436–450
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• White JG. Medich giant platelet disorder: A unique α-granule deficiency. 1. Structural abnormalities. Platelets 2004; 15: 345–353
   PubMed Web of Science ®Google Scholar
• Raccuglia G. Gray platelet syndrome: A variety of qualitative platelet disorders. Am J Med 1971; 51: 818–828
   PubMed Web of Science ®Google Scholar
• White JG. Ultrastructural studies of the gray platelet syndrome. Am J Pathol 1979; 95: 445–462
   PubMed Web of Science ®Google Scholar
• Tubman VN, Levine JE, Compagna DR, Monahan-Earley R, Dvorak AM, Neufeld EJ, Flemming MD. X-linked gray platelet syndrome due to a GATA-1 Arg 216 Glu mutation. Blood 2007; 109: 3297–3299
   PubMed Web of Science ®Google Scholar
• Dvorak A, Monahan-Earley R. Diagnostic ultrastructural pathology: A text atlas of case studies emphasizing endocrine and hematopoietic systems. CRC Press, Boca Raton, FL 1995; 3
   Google Scholar