Platelet storage pool deficiency

Platelet storage pool deficiency
Classification and external resources
Specialty	hematology
ICD-10	D69.1
OMIM	185050
MeSH	D010981

Platelet storage pool deficiency is a type of coagulopathy characterized by defects in the granules in platelets, particularly a lack of granular non-metabolic ADP.^[1] Patients with ADP deficient "Storage Pool Disease" present a prolonged bleeding time due to impaired aggregation response to fibrillar collagen.

It may involve the alpha granules or the dense granules.^[2]

Conditions

Examples include:

• Platelet alpha-granules
  • Gray platelet syndrome^[3]
  • Quebec platelet disorder
• Dense granules
  • δ-Storage pool deficiency^[4]
  • Hermansky-Pudlak syndrome^[5]
  • Chediak-Higashi syndrome^[6]

References

1. Alan D. Michelson (2007). Platelets. Burlington, MA: Academic Press/Elsevier. p. 313. ISBN 0-12-369367-5.
2. William B. Coleman; Gregory J. Tsongalis (2009). Molecular pathology: the molecular basis of human disease. Academic Press. pp. 258–. ISBN 978-0-12-374419-7. Retrieved 2 November 2010.
3. Hayward CP, Weiss HJ, Lages B, et al. (June 2001). "The storage defects in grey platelet syndrome and alphadelta-storage pool deficiency affect alpha-granule factor V and multimerin storage without altering their proteolytic processing". Br. J. Haematol. 113 (4): 871–7. doi:10.1046/j.1365-2141.2001.02833.x. PMID 11442477.
4. Kaushansky K, Lichtman M, Beutler E, Kipps T, Prchal J, Seligsohn U. (2010; edition 8: pages 1946–1948) Williams Hematology. McGraw-Hill. ISBN 978-0-07-162151-9
5. Huizing M, Anikster Y, Fitzpatrick DL, et al. (November 2001). "Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency". Am. J. Hum. Genet. 69 (5): 1022–32. doi:10.1086/324168. PMC 1274349. PMID 11590544.
6. Novak EK, McGarry MP, Swank RT (November 1985). "Correction of symptoms of platelet storage pool deficiency in animal models for Chediak-Higashi syndrome and Hermansky-Pudlak syndrome". Blood 66 (5): 1196–201. PMID 3902123.