Platelet pathology in sex-linked GATA-1 dyserythropoietic macrothrombocytopenia I ultrastructure

Platelets

Volumn 18, Issue 4, 2007, Pages 273-283

  White, James G ^a   Nichols, William L ^b   Steensma, David P ^b  

^a UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

^b MAYO CLINIC   (United States)

Author keywords

I ultrastructure; Platelet pathology; Sex linked GATA 1 mutation

Indexed keywords

TRANSCRIPTION FACTOR GATA 1;

ARTICLE; BONE MARROW; CYTOPLASM; ERYTHROPOIESIS; FEMALE; HUMAN; HUMAN CELL; MALE; MEGAKARYOCYTE; PRIORITY JOURNAL; THROMBOCYTE; THROMBOCYTE ACTIVATION; THROMBOCYTE STRUCTURE; THROMBOCYTOPENIA; THROMBOCYTOPOIESIS; ULTRASTRUCTURE;

BLOOD PLATELETS; ERYTHROPOIESIS; FEMALE; GATA1 TRANSCRIPTION FACTOR; GENETIC DISEASES, X-LINKED; HUMANS; MALE; MICROSCOPY, ELECTRON; PEDIGREE; THROMBOCYTOPENIA;

EID: 34249788708     PISSN: 09537104     EISSN: 13691635     Source Type: Journal    
DOI: 10.1080/09537100601065825     Document Type: Article

References (34)

1. 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.
2. 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.
3. 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.
4. 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 GATA1. Nat Genet 2000;24:266-270.
5. 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.
6. 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 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.
7. 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.
8. 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.
9. Vyas P, Ault K, Jackson CW, Orkin SH, Shivdasani RA. Consequences of GATA-1 deficiency in megakaryocytes and platelets. Blood 1999;93:2867-2875.
10. 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.
11. 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 R216 Q mutation of GATA-1 on erythropoiesis and megakaryocytopoiesis. Blood 2004;91:129-140.
12. Tubman VN, Levine JE, Camoagna DR, Fleming MD, Neufeld EJ. X-linked Gray Platelet Syndrome due to a GATA-1 Arg 216G in mutation. Blood 2005;106:6a.
13. Raccuglia G. Gray platelet syndrome: A variety of qualitative platelet disorders. Am J Med 1971;51:818-828.
14. White JG. Ultrastructural studies of the gray platelet syndrome. Am J Pathol 1979;95:445-462.
15. White JG. Effects of ethylenediamine tetracetic acid (EDTA) on platelet fine structure. Scand J Haematol 1968;5:241-254.
16. White JG. Platelet membrane interactions. Platelets 1999;10:368-381.
17. White JG. The morphology of platelet function, In: Harker LA, Zimmerman TS, editors. New York: Churchill-Livingstone; 1983. pp 1-25.
18. 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.
19. 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.
20. Breton-Gorius J, Vainchenker W, Nurden A, Levy-Toledano S, Caen J. Defective α-granule production in megakaryocytes from gray platelet syndrome. Am J Pathol 1981;102:10-19.
21. White JG. Medich Giant Platelet Disorder: A Unique α-granule deficiency. 1. Structural abnormalities. Platelets 2004;15:345-353.
22. Leven RM, Toblin F. Megakaryocyte and platelet ultrastructure in the Wistar Furth rat. Am J Pathol 1988;132:417-426.
23. Breton-Gorius J, Reyes F. Ultrastructure of human bone marrow cell maturation. Int Rev Cytol 1976;46:251-321.
24. White JG. Platelet morphology. In: Johnson, SE, editor. New York: Academic Press; 1971. pp 45-121.
25. White JG. Ultrastructural physiology and cytochemistry of blood platelets. Platelets 1971;6:83-115.
26. Cramer EM, Vainchenker W, Vinci G, Guichard J, Breton-Gorius J. Gray platelet syndrome: Immunoelectron microscope localization of fibrinogen and von Willebrand factor in platelets and megakaryocytes. Blood 1985;66:1309-1316.
27. Risa JP, George JN, Bainton DF, Nurden AT, Caen JP, McEver RP. Gray platelet syndrome: Demonstration of α-granule membranes that can fuse with the cell surface. J Clin Invest 1987;80:1138-1146.
28. White JG, Keel S, Reyes M, Burris SM. Alpha-delta storage pool deficiency in 3 generations. Platelets (In press).
29. White JG. Localization of a lysosomal enzyme in platelets from patients with the white platelets syndrome. Platelets. (In press).
30. Radey JM, Haller CJ. The demarcation membrane system of the megakaryocyte: A misnomer? Blood 1982;60:213-219.
31. Italiano Jr JE, Lecine P, Shivdasani RA, Hartwig JH. Blood platelets are assembled principally at the ends of proplatelet processes produced by differentiated megakaryocytes. J Cell Biol 1999;147:1299-1312.
32. Schulze H, Karpal M, Hurov J, Kim SW, Zhang J, Cantley WC, Graf T, Shivdasani A. Characterization of the megakaryocyte demarcation membrane system and its role in thrombopoiesis. Blood 2006;107:3868-3875.
33. White JG. Structural defects in inherited and giant platelet disorders. Adv Hum Genet 1990;19:133-234.
34. White JG. Giant platelet disorders. Haemostasiologie 2002;87:85-89.