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Blood, 15 April 2007, Vol. 109, No. 8, pp. 3297-3299. Prepublished online as a Blood First Edition Paper on January 5, 2007; DOI 10.1182/blood-2006-02-004101. This Article Full Text (PDF) Supplemental Primers and Figures All Versions of this Article: blood-2006-02-004101v1 109/8/3297    most recent Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via HighWire Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Tubman, V. N Articles by Fleming, M. D Search for Related Content PubMed PubMed Citation Articles by Tubman, V. N Articles by Fleming, M. D Related Collections Related Articles in Blood Online Social Bookmarking                   What's this?  Previous Article  |  Next Article  Submitted February 16, 2006 Accepted May 14, 2006 X-linked gray platelet syndrome due to a GATA1 Arg216Gln mutation Venee N Tubman, Jason E Levine, Dean R Campagna, Rita Monahan-Earley, Ann M Dvorak, Ellis J Neufeld, and Mark D Fleming* University of Pennsylvania School of Medicine, Philadelphia, PA Division of Hematology/Oncology, Children's Hospital, Dana Farber Cancer Institute and Harvard Medical School, Boston, MA Department of Pathology, Children's Hospital and Harvard Medical School, Boston, MA Department of Pathology, Beth Israel-Deaconess Medical Center and Harvard Medical School, Boston, MA * Corresponding author; email: mark.fleming{at}childrens.harvard.edu. We identified a family with gray platelet syndrome segregating as a sex-linked trait. Affected males had a mild bleeding disorder, thrombocytopenia, and large agranular platelets characteristic of GPS, while obligate carrier females were asymptomatic, but had dimorphic platelets on peripheral smear. Associated findings included mild erythrocyte abnormalities in affected males. Linkage analysis revealed a 63cM region on the X chromosome between markers G10578 and DXS6797 which segregated with the platelet phenotype and included the GATA1 gene. Sequencing of GATA1 revealed a G to A mutation at position 759, corresponding to amino acid change Arg216Gln. This mutation was previously described as a cause of X-linked thrombocytopenia with thalassemia (XLTT), but not of gray platelet syndrome. Our findings would suggest that XLTT is within a spectrum of disorders comprising the gray platelet syndrome, and we propose that GATA1 is an upstream regulator of the genes required for platelet alpha granule biogenesis. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? Related Articles in Blood Online: Why the disorder induced by GATA1 Arg216Gln mutation should be called "X-linked thrombocytopenia with thalassemia" rather than "X-linked gray platelet syndrome" Carlo L. Balduini, Erica De Candia, and Anna Savoia Blood 2007 110: 2770-2771. [Full Text] [PDF] Response: What's in a name? Ellis J. Neufeld, Venee N. Tubman, Jason E. Levine, Dean R. Campagna, Rita Monahan-Earley, Ann M. Dvorak, and Mark D. Fleming Blood 2007 110: 2771. [Full Text] [PDF] This article has been cited by other articles: C. L. Balduini, E. De Candia, and A. Savoia Why the disorder induced by GATA1 Arg216Gln mutation should be called "X-linked thrombocytopenia with thalassemia" rather than "X-linked gray platelet syndrome" Blood, October 1, 2007; 110(7): 2770 - 2771. [Full Text] [PDF] A. T. Nurden and P. Nurden Inherited thrombocytopenias Haematologica, September 1, 2007; 92(9): 1158 - 1164. [Full Text] [PDF]

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