Platelet storage pool deficiency

Platelet storage pool deficiency
Classification and external resources
ICD-10	D 69.1
OMIM	185050
MeSH	D010981

Platelet storage pool deficiency is a type of coagulopathy characterized by defects in the granules in platelets.^[1]

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
- Hermansky-Pudlak syndrome^[4]
- Chediak-Higashi syndrome^[5]

References

^ Alan D. Michelson (2007). Platelets. Burlington, MA: Academic Press/Elsevier. pp. 313. ISBN 0-12-369367-5.
^ William B. Coleman; Gregory J. Tsongalis (2009). Molecular pathology: the molecular basis of human disease. Academic Press. pp. 258–. ISBN 9780123744197. http://books.google.com/books?id=btloapOq85wC&pg=PA258. Retrieved 2 November 2010.
^ 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. http://www3.interscience.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0007-1048&date=2001&volume=113&issue=4&spage=871.
^ 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. http://linkinghub.elsevier.com/retrieve/pii/S0002-9297(07)61318-4.
^ 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. http://www.bloodjournal.org/cgi/pmidlookup?view=long&pmid=3902123.

Pathology: hematology · hematologic diseases of RBCs and megakaryocytes / MEP (D50-69,74, 280-287)

Red
blood cells

↑

Poly- cythemia	Polycythemia vera

↓

Micro-: Iron deficiency anemia (Plummer-Vinson syndrome)

Macro-: Megaloblastic anemia (Pernicious anemia)

Hemolytic
(mostly Normo-)

Hereditary	enzymopathy: G6PD · glycolysis (PK, TI, HK) hemoglobinopathy: Thalassemia (alpha, beta, delta) · Sickle-cell disease/trait · HPFH membrane: Hereditary spherocytosis (Minkowski-Chauffard syndrome) · Hereditary elliptocytosis (Southeast Asian ovalocytosis) · Hereditary stomatocytosis

Acquired	Autoimmune (WAHA, CAD, PCH) membrane (PNH) MAHA · TM (HUS) Drug-induced autoimmune · Drug-induced nonautoimmune Hemolytic disease of the newborn

Aplastic
(mostly Normo-)

Hereditary: Fanconi anemia · Diamond–Blackfan anemia

Acquired: PRCA · Sideroblastic anemia · Myelophthisic

MCV (Normocytic, Microcytic, Macrocytic) · MCHC (Normochromic, Hypochromic)

Other

Methemoglobinemia · Sulfhemoglobinemia · Reticulocytopenia

Coagulation/
coagulopathy

↑

Hyper- coagulability	primary: Antithrombin III deficiency · Protein C deficiency/Activated protein C resistance/Protein S deficiency/Factor V Leiden · Hyperprothrombinemia acquired:Thrombocytosis (essential) · DIC (Congenital afibrinogenemia, Purpura fulminans) · autoimmune (Antiphospholipid)

↓

Hypo-
coagulability

Thrombocytopenia	Thrombocytopenic purpura: ITP (Evans syndrome) · TM (TTP) Heparin-induced thrombocytopenia · May-Hegglin anomaly

Platelet function	adhesion (Bernard–Soulier syndrome) · aggregation (Glanzmann's thrombasthenia) · platelet storage pool deficiency (Hermansky–Pudlak syndrome, Gray platelet syndrome)

Clotting factor	Hemophilia (A/VIII, B/IX, C/XI) • von Willebrand disease • Hypoprothrombinemia/II · XIII · Dysfibrinogenemia

M: MYL

cell/phys (coag, heme, immu, gran), csfs

rbmg/mogr/tumr/hist, sysi/epon, btst

drug (B1/2/3+5+6), btst, trns