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Platelet storage pool deficiency

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Title: Platelet storage pool deficiency  
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Subject: Nutritional anemia, Delta-thalassemia, Hexokinase deficiency, Hereditary persistence of fetal hemoglobin, Congenital amegakaryocytic thrombocytopenia
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Platelet storage pool deficiency

Platelet storage pool deficiency
Classification and external resources
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:

References

  1. ^ Alan D. Michelson (2007). Platelets. Burlington, MA: Academic Press/Elsevier. p. 313.  
  2. ^ William B. Coleman; Gregory J. Tsongalis (2009). Molecular pathology: the molecular basis of human disease. Academic Press. pp. 258–.  
  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.  
  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.  
  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.  




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