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Abnormal platelet granule secretion

MedGen UID:
892815
•Concept ID:
C4072929
•
Finding
HPO: HP:0030396

Definition

Platelets are replete with secretory granules, which are critical to normal platelet function. Among the three types of platelet secretory granules - alpha-granules, dense granules, and lysosomes - the alpha-granule is the most abundant. Granule contents must be released from their intracellular repository in order to achieve their physiologic function, and this term refers to a functional defect in granule secretion. [from HPO]

Professional guidelines

PubMed

Correlation between platelet phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and α-granule deficiency.
Bottega R, Pecci A, De Candia E, Pujol-Moix N, Heller PG, Noris P, De Rocco D, Podda GM, Glembotsky AC, Cattaneo M, Balduini CL, Savoia A
Haematologica 2013 Jun;98(6):868-74. Epub 2012 Oct 25 doi: 10.3324/haematol.2012.075861. PMID: 23100277Free PMC Article
Quebec platelet disorder: features, pathogenesis and treatment.
Diamandis M, Veljkovic DK, Maurer-Spurej E, Rivard GE, Hayward CP
Blood Coagul Fibrinolysis 2008 Mar;19(2):109-19. doi: 10.1097/MBC.0b013e3282f41e3e. PMID: 18277131
Zellweger syndrome: biochemical procedures in diagnosis, prevention and treatment.
Schutgens RB, Wanders RJ, Heymans HS, Schram AW, Tager JM, Schrakamp G, van den Bosch H
J Inherit Metab Dis 1987;10 Suppl 1:33-45. doi: 10.1007/BF01812845. PMID: 3119940

Recent clinical studies

Etiology

Cancer-associated-platelet-inspired nanomedicines for cancer therapy.
Geranpayehvaghei M, Dabirmanesh B, Khaledi M, Atabakhshi-Kashi M, Gao C, Taleb M, Zhang Y, Khajeh K, Nie G
Wiley Interdiscip Rev Nanomed Nanobiotechnol 2021 Sep;13(5):e1702. Epub 2021 Feb 3 doi: 10.1002/wnan.1702. PMID: 33538125
Orchestration of Primary Hemostasis by Platelet and Endothelial Lysosome-Related Organelles.
Karampini E, Bierings R, Voorberg J
Arterioscler Thromb Vasc Biol 2020 Jun;40(6):1441-1453. Epub 2020 May 7 doi: 10.1161/ATVBAHA.120.314245. PMID: 32375545
What we have learned from inherited platelet disorders.
Israels SJ, Rand ML
Pediatr Blood Cancer 2013;60 Suppl 1:S2-7. Epub 2012 Oct 25 doi: 10.1002/pbc.24345. PMID: 23109117
Inherited defects in platelet signaling mechanisms.
Rao AK, Jalagadugula G, Sun L
Semin Thromb Hemost 2004 Oct;30(5):525-35. doi: 10.1055/s-2004-835673. PMID: 15497095
Lysosome-related organelles.
Dell'Angelica EC, Mullins C, Caplan S, Bonifacino JS
FASEB J 2000 Jul;14(10):1265-78. doi: 10.1096/fj.14.10.1265. PMID: 10877819

Diagnosis

Immune dysregulation, autoimmunity, and granule defects in gray platelet syndrome.
Collins JH, Mayer L, Guerrero Lopez JA
J Thromb Haemost 2023 Jun;21(6):1409-1419. Epub 2023 Apr 5 doi: 10.1016/j.jtha.2023.03.032. PMID: 37028650
α-granule biogenesis: from disease to discovery.
Chen CH, Lo RW, Urban D, Pluthero FG, Kahr WH
Platelets 2017 Mar;28(2):147-154. Epub 2017 Feb 22 doi: 10.1080/09537104.2017.1280599. PMID: 28277061
A review of platelet secretion assays for the diagnosis of inherited platelet secretion disorders.
Mumford AD, Frelinger AL 3rd, Gachet C, Gresele P, Noris P, Harrison P, Mezzano D
Thromb Haemost 2015 Jul;114(1):14-25. Epub 2015 Apr 16 doi: 10.1160/TH14-11-0999. PMID: 25879272
Inherited platelet function disorders: overview and disorders of granules, secretion, and signal transduction.
Rao AK
Hematol Oncol Clin North Am 2013 Jun;27(3):585-611. doi: 10.1016/j.hoc.2013.02.005. PMID: 23714313
Inherited platelet disorders.
Handin RI
Hematology Am Soc Hematol Educ Program 2005:396-402. doi: 10.1182/asheducation-2005.1.396. PMID: 16304410

Therapy

Anti-Thrombotic Effects of Artesunate through Regulation of cAMP and PI3K/MAPK Pathway on Human Platelets.
Yoon SS, Kwon HW, Shin JH, Rhee MH, Park CE, Lee DH
Int J Mol Sci 2022 Jan 29;23(3) doi: 10.3390/ijms23031586. PMID: 35163507Free PMC Article
Cancer-associated-platelet-inspired nanomedicines for cancer therapy.
Geranpayehvaghei M, Dabirmanesh B, Khaledi M, Atabakhshi-Kashi M, Gao C, Taleb M, Zhang Y, Khajeh K, Nie G
Wiley Interdiscip Rev Nanomed Nanobiotechnol 2021 Sep;13(5):e1702. Epub 2021 Feb 3 doi: 10.1002/wnan.1702. PMID: 33538125
Thrombin generation abnormalities in Quebec platelet disorder.
Brunet JG, Sharma T, Tasneem S, Liang M, Wilson MD, Rivard GE, Hayward CPM
Int J Lab Hematol 2020 Dec;42(6):801-809. Epub 2020 Aug 6 doi: 10.1111/ijlh.13302. PMID: 32761872Free PMC Article
Thrombocytopenia is associated with severe retinopathy of prematurity.
Cakir B, Liegl R, Hellgren G, Lundgren P, Sun Y, Klevebro S, Löfqvist C, Mannheimer C, Cho S, Poblete A, Duran R, Hallberg B, Canas J, Lorenz V, Liu ZJ, Sola-Visner MC, Smith LE, Hellström A
JCI Insight 2018 Oct 4;3(19) doi: 10.1172/jci.insight.99448. PMID: 30282834Free PMC Article
Chediak-Higashi syndrome.
Barak Y, Nir E
Am J Pediatr Hematol Oncol 1987 Spring;9(1):42-55. doi: 10.1097/00043426-198721000-00008. PMID: 3296821

Prognosis

Deciphering Platelet Kinetics in Diagnostic and Prognostic Evaluation of Hepatocellular Carcinoma.
Aryal B, Yamakuchi M, Shimizu T, Kadono J, Furoi A, Gejima K, Komokata T, Hashiguchi T, Imoto Y
Can J Gastroenterol Hepatol 2018;2018:9142672. Epub 2018 Jun 27 doi: 10.1155/2018/9142672. PMID: 30050894Free PMC Article
A review of platelet secretion assays for the diagnosis of inherited platelet secretion disorders.
Mumford AD, Frelinger AL 3rd, Gachet C, Gresele P, Noris P, Harrison P, Mezzano D
Thromb Haemost 2015 Jul;114(1):14-25. Epub 2015 Apr 16 doi: 10.1160/TH14-11-0999. PMID: 25879272
Platelet morphological, functional and rheological properties attributable to addictions.
Zvetkova E, Antonova N, Ivanov I, Savov Y, Gluhcheva Y
Clin Hemorheol Microcirc 2010;45(2-4):245-51. doi: 10.3233/CH-2010-1305. PMID: 20675906
Bleeding time and platelet function in essential thrombocythemia and other myeloproliferative syndromes.
Finazzi G, Budde U, Michiels JJ
Leuk Lymphoma 1996 Sep;22 Suppl 1:71-8. doi: 10.3109/10428199609074363. PMID: 8951775
Platelet abnormalities in myeloproliferative disorders.
Holme S, Murphy S
Clin Lab Med 1990 Dec;10(4):873-88. PMID: 2272179

Clinical prediction guides

NBEAL2 mutations and bleeding in patients with gray platelet syndrome.
Pluthero FG, Di Paola J, Carcao MD, Kahr WHA
Platelets 2018 Sep;29(6):632-635. Epub 2018 Jun 5 doi: 10.1080/09537104.2018.1478405. PMID: 29869935
A review of platelet secretion assays for the diagnosis of inherited platelet secretion disorders.
Mumford AD, Frelinger AL 3rd, Gachet C, Gresele P, Noris P, Harrison P, Mezzano D
Thromb Haemost 2015 Jul;114(1):14-25. Epub 2015 Apr 16 doi: 10.1160/TH14-11-0999. PMID: 25879272
Effects of cancer on platelets.
van Es N, Sturk A, Middeldorp S, Nieuwland R
Semin Oncol 2014 Jun;41(3):311-8. Epub 2014 Apr 24 doi: 10.1053/j.seminoncol.2014.04.015. PMID: 25023347
What we have learned from inherited platelet disorders.
Israels SJ, Rand ML
Pediatr Blood Cancer 2013;60 Suppl 1:S2-7. Epub 2012 Oct 25 doi: 10.1002/pbc.24345. PMID: 23109117
Lysosome-related organelles.
Dell'Angelica EC, Mullins C, Caplan S, Bonifacino JS
FASEB J 2000 Jul;14(10):1265-78. doi: 10.1096/fj.14.10.1265. PMID: 10877819

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