Grey platelet syndrome

(Redirected from Gray platelet syndrome)
Jump to: navigation, search

WikiDoc Resources for Grey platelet syndrome

Articles

Most recent articles on Grey platelet syndrome

Most cited articles on Grey platelet syndrome

Review articles on Grey platelet syndrome

Articles on Grey platelet syndrome in N Eng J Med, Lancet, BMJ

Media

Powerpoint slides on Grey platelet syndrome

Images of Grey platelet syndrome

Photos of Grey platelet syndrome

Podcasts & MP3s on Grey platelet syndrome

Videos on Grey platelet syndrome

Evidence Based Medicine

Cochrane Collaboration on Grey platelet syndrome

Bandolier on Grey platelet syndrome

TRIP on Grey platelet syndrome

Clinical Trials

Ongoing Trials on Grey platelet syndrome at Clinical Trials.gov

Trial results on Grey platelet syndrome

Clinical Trials on Grey platelet syndrome at Google

Guidelines / Policies / Govt

US National Guidelines Clearinghouse on Grey platelet syndrome

NICE Guidance on Grey platelet syndrome

NHS PRODIGY Guidance

FDA on Grey platelet syndrome

CDC on Grey platelet syndrome

Books

Books on Grey platelet syndrome

News

Grey platelet syndrome in the news

Be alerted to news on Grey platelet syndrome

News trends on Grey platelet syndrome

Commentary

Blogs on Grey platelet syndrome

Definitions

Definitions of Grey platelet syndrome

Patient Resources / Community

Patient resources on Grey platelet syndrome

Discussion groups on Grey platelet syndrome

Patient Handouts on Grey platelet syndrome

Directions to Hospitals Treating Grey platelet syndrome

Risk calculators and risk factors for Grey platelet syndrome

Healthcare Provider Resources

Symptoms of Grey platelet syndrome

Causes & Risk Factors for Grey platelet syndrome

Diagnostic studies for Grey platelet syndrome

Treatment of Grey platelet syndrome

Continuing Medical Education (CME)

CME Programs on Grey platelet syndrome

International

Grey platelet syndrome en Espanol

Grey platelet syndrome en Francais

Business

Grey platelet syndrome in the Marketplace

Patents on Grey platelet syndrome

Experimental / Informatics

List of terms related to Grey platelet syndrome

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

Gray platelet syndrome (GPS), or platelet alpha-granule deficiency,[1] is a rare congenital autosomal recessive bleeding disorder caused by a reduction or absence of alpha-granules in blood platelets, and the release of proteins normally contained in these granules into the marrow, causing myelofibrosis.[2]

GPS is primarily inherited in an autosomal recessive manner, and the gene that is mutated in GPS has recently been mapped to chromosome 3p[3] and identified as NBEAL2.[4] NBEAL2 encodes a protein containing a BEACH domain that is predicted to be involved in vesicular trafficking. It is expressed in platelets and megakaryocytes and is required for the development of platelet alpha-granules.[5] NBEAL2 expression is also required for the development of thrombocytes in zebrafish.[6]

GPS is characterized by "thrombocytopenia, and abnormally large agranular platelets in peripheral blood smears."[7] The defect in GPS is the failure of megakaryocytes to package secretory proteins into alpha-granules. Patients with the GPS are affected by mild to moderate bleeding tendencies.

See also

References

  1. Online 'Mendelian Inheritance in Man' (OMIM) 139090
  2. Nurden AT, Nurden P (2007). "The gray platelet syndrome: clinical spectrum of the disease". Blood Rev. 21 (1): 21–36. PMID 16442192. doi:10.1016/j.blre.2005.12.003. 
  3. Gunay-Aygun M, Zivony-Elboum Y, Gumruk F, et al. (December 2010). "Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p". Blood. 116 (23): 4990–5001. PMC 3012593Freely accessible. PMID 20709904. doi:10.1182/blood-2010-05-286534. 
  4. Kahr WH, Hinckley J, Li L, et al. (August 2011). "Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome". Nat. Genet. 43 (8): 738–40. PMID 21765413. doi:10.1038/ng.884. 
  5. Gunay-Aygun M, Falik-Zaccai TC, Vilboux T, et al. (August 2011). "NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules". Nat. Genet. 43 (8): 732–4. PMC 3154019Freely accessible. PMID 21765412. doi:10.1038/ng.883. 
  6. Albers CA, Cvejic A, Favier R, et al. (August 2011). "Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome". Nat. Genet. 43 (8): 735–7. PMC 3428934Freely accessible. PMID 21765411. doi:10.1038/ng.885. 
  7. Jantunen E, Hänninen A, Naukkarinen A, Vornanen M, Lahtinen R (July 1994). "Gray platelet syndrome with splenomegaly and signs of extramedullary hematopoiesis: a case report with review of the literature". Am. J. Hematol. 46 (3): 218–24. PMID 8192152. doi:10.1002/ajh.2830460311. 

External links



Linked-in.jpg