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Platelet storage pool deficiency

Other Names for this Disease
  • Platelet storage pool diseases
  • Storage pool platelet disease
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Platelet storage pool deficiencies are rare platelet abnormalities that cause a mild to moderate bleeding disorder. Platelet storage pool deficiencies consist of a number of disorders characterized by a reduction in the number and content of certain types of platelets, called dense granules and alpha granules. The dense granules in platelets serve as a "storage pool" for adenosine triphosphate (ATP), adenosine diphosphate (ADP), serotonin, calcium, and pyrophosphate, which are secreted when platelets are activated.  It is thought that the reduced release of ADP may result in the prolonged bleeding times.[1]

Classically, the clinical features of storage pool disorders include nosebleeds (epistaxis), abnormally heavy or prolonged menstruation (menorrhagia), easy bruising, recurrent anemia, and obstetric or surgical bleeding.[2]  Four major types of congenital platelet storage pool disease have been described: dense body deficiency, gray platelet syndrome, Factor V Quebec, and mixed alpha-granule/dense body deficiency.[3] The inheritance of an isolated platelet storage pool deficiency is thought to be autosomal dominant, but the penetrance of the gene vary from person to person.[4] 

Platelet storage pool deficiencies can also be part of other inherited conditions including Hermansky-Pudlak syndrome, Chediak-Higashi syndrome  which are autosomal recessive conditions, Wiskott-Aldrich syndrome, an X-linked recessive condition, and thrombocytopenia-absent radius (TAR) syndrome.[3] The inheritance pattern of TAR syndrome is unclear. [5]
Last updated: 10/15/2013


  1. Storage Pool Platelet Disease. Online Mendelian Inheritance of Man. March 3, 2009; Accessed 10/15/2013.
  2. Jewell, M., MaGann, EF, Barr, A., and Baker, R. Management of platelet storage pool deficiency during pregnancy. Australian and New Zealand Journal of Obstetrics and Gynecology. 2003; 43(2):171-172.
  3. Riley RS. Platelet Storage Pool Diseases. Virginia Commonwealth University. Accessed 10/15/2013.
  4. Rahman S, Myers J, Gilham J, Fitzmaurice R, Johnston T. Post partum haemorrhage secondary to uterine atony, complicated by platelet storage pool disease and partial placenta diffusa: a case report. Cases Journal. December 13, 2008; Accessed 10/15/2013.
  5. Thrombocytopenia-absent radius syndrome. Genetics Home Reference. March 2009; Accessed 10/15/2013.
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