Why the disorder induced by GATA1 Arg216Gln mutation should be called "X-linked thrombocytopenia with thalassemia" rather than "X-linked gray platelet syndrome" [4]

Blood

Volumn 110, Issue 7, 2007, Pages 2770-2771

  Balduini, Carlo L ^a   De Candia, Erica ^b   Savoia, Anna ^b  

^a FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA GRANULE PROTEIN; ARGININE; HEMOGLOBIN F; PROTEIN; TRANSCRIPTION FACTOR GATA 1; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; CLINICAL FEATURE; COMPARATIVE STUDY; CONGENITAL DYSERYTHROPOIETIC ANEMIA; DISEASE SEVERITY; GENE MUTATION; GENOTYPE; HUMAN; LETTER; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; X CHROMOSOME LINKED DISORDER; X LINKED GRAY PLATELET SYNDROME; X LINKED THROMBOCYTOPENIA WITH THALASSEMIA;

ARGININE; BLOOD PLATELETS; GATA1 TRANSCRIPTION FACTOR; GENES, X-LINKED; GLUTAMINE; HUMANS; MUTATION; SYNDROME; TERMINOLOGY AS TOPIC; THALASSEMIA; THROMBOCYTOPENIA;

EID: 34948890038     PISSN: 00064971     EISSN: 00064971     Source Type: Journal    
DOI: 10.1182/blood-2007-03-080978     Document Type: Letter

References (9)

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2. Del Vecchio GC, Giordani L, De Santis A, De Mattia D. Dyserythropoietic anemia and thrombocytopenia due to a novel mutation in GATA-1. Acta Haematol. 2005;114:113-116.
3. Yu C, Niakan KK, Matsushita M, Stamatoyannopoulos Orkin SH, Raskind W. X-linked thrombocytopenia with thalassemia due to a mutation in the amino-finger of GATA-1 affecting DNA-binding rather than FOG-1 interaction. Blood. 2002;100:2040-2045.
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8. Falik-Zaccai TC, Anikster Y, Rivera CE, et al. A new genetic isolate of gray platelet syndrome (GPS): clinical, cellular, and hematologic characteristics. Mol Genet Metab. 2001;74:303-313.
9. De Candia E, Pecci A, Ciabattoni G, et al. Defective platelet responsiveness to thrombin and protease-activated receptors agonists in a novel case of gray platelet syndrome: correlation between the platelet defect and the alpha-granule content in the patient and four relatives. J Thromb Haemost. 2007;5:551-559.