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Abnormal platelet granules

MedGen UID:
868741
•Concept ID:
C4023146
•
Anatomical Abnormality
HPO: HP:0011883

Definition

An anomaly of alpha or dense granules or platelet lysosomes. [from HPO]

Professional guidelines

PubMed

Inherited platelet disorders: a clinical approach to diagnosis and management.
Cox K, Price V, Kahr WH
Expert Rev Hematol 2011 Aug;4(4):455-72. doi: 10.1586/ehm.11.41. PMID: 21801136
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

Natural history study of patients with familial platelet disorder with associated myeloid malignancy.
Cunningham L, Merguerian M, Calvo KR, Davis J, Deuitch NT, Dulau-Florea A, Patel N, Yu K, Sacco K, Bhattacharya S, Passi M, Ozkaya N, De Leon S, Chong S, Craft K, Diemer J, Bresciani E, O'Brien K, Andrews EJ, Park N, Hathaway L, Cowen EW, Heller T, Ryan K, Barochia A, Nghiem K, Niemela J, Rosenzweig S, Young DJ, Frischmeyer-Guerrerio PA, Braylan R, Liu PP
Blood 2023 Dec 21;142(25):2146-2158. doi: 10.1182/blood.2023019746. PMID: 37738626Free PMC Article
Coronavirus disease 2019 (COVID-19): Focus on peripheral blood cell morphology.
Zini G, d'Onofrio G
Br J Haematol 2023 Feb;200(4):404-419. Epub 2022 Oct 6 doi: 10.1111/bjh.18489. PMID: 36203344Free PMC Article
Screening platelet function in blood donors.
Pedini P, Baudey JB, Pouymayou K, Falaise C, Ibrahim-Kosta M, Vélier M, Demerle C, Graiet H, Dragutini C, Dombey AM, Chiaroni J, Alessi MC, Picard C
Transfusion 2022 Aug;62(8):1643-1651. Epub 2022 Jun 24 doi: 10.1111/trf.16990. PMID: 35748562Free 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
Acute megakaryoblastic leukemia.
Gassmann W, Löffler H
Leuk Lymphoma 1995;18 Suppl 1:69-73. doi: 10.3109/10428199509075307. PMID: 7496359

Diagnosis

Natural history study of patients with familial platelet disorder with associated myeloid malignancy.
Cunningham L, Merguerian M, Calvo KR, Davis J, Deuitch NT, Dulau-Florea A, Patel N, Yu K, Sacco K, Bhattacharya S, Passi M, Ozkaya N, De Leon S, Chong S, Craft K, Diemer J, Bresciani E, O'Brien K, Andrews EJ, Park N, Hathaway L, Cowen EW, Heller T, Ryan K, Barochia A, Nghiem K, Niemela J, Rosenzweig S, Young DJ, Frischmeyer-Guerrerio PA, Braylan R, Liu PP
Blood 2023 Dec 21;142(25):2146-2158. doi: 10.1182/blood.2023019746. PMID: 37738626Free PMC Article
Laboratory Techniques Used to Diagnose Constitutional Platelet Dysfunction.
Ibrahim-Kosta M, Alessi MC, Hezard N
Hamostaseologie 2020 Nov;40(4):444-459. Epub 2020 Sep 15 doi: 10.1055/a-1223-3306. PMID: 32932546
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
Platelet function assays.
Rand ML, Leung R, Packham MA
Transfus Apher Sci 2003 Jun;28(3):307-17. doi: 10.1016/S1473-0502(03)00050-8. PMID: 12725958
Acute megakaryoblastic leukemia.
Gassmann W, Löffler H
Leuk Lymphoma 1995;18 Suppl 1:69-73. doi: 10.3109/10428199509075307. PMID: 7496359

Therapy

Flow-chamber device (T-TAS) to diagnose patients suspected of platelet function defects.
Lecchi A, La Marca S, Padovan L, Boscarino M, Peyvandi F, Tripodi A
Blood Transfus 2024 Jan;22(1):55-64. Epub 2023 Feb 7 doi: 10.2450/2023.0208-22. PMID: 36795343Free PMC Article
Natural history study of patients with familial platelet disorder with associated myeloid malignancy.
Cunningham L, Merguerian M, Calvo KR, Davis J, Deuitch NT, Dulau-Florea A, Patel N, Yu K, Sacco K, Bhattacharya S, Passi M, Ozkaya N, De Leon S, Chong S, Craft K, Diemer J, Bresciani E, O'Brien K, Andrews EJ, Park N, Hathaway L, Cowen EW, Heller T, Ryan K, Barochia A, Nghiem K, Niemela J, Rosenzweig S, Young DJ, Frischmeyer-Guerrerio PA, Braylan R, Liu PP
Blood 2023 Dec 21;142(25):2146-2158. doi: 10.1182/blood.2023019746. PMID: 37738626Free PMC Article
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
Rare bleeding disorders.
Peyvandi F, Cattaneo M, Inbal A, De Moerloose P, Spreafico M
Haemophilia 2008 Jul;14 Suppl 3:202-10. doi: 10.1111/j.1365-2516.2008.01751.x. PMID: 18510543

Prognosis

Natural history study of patients with familial platelet disorder with associated myeloid malignancy.
Cunningham L, Merguerian M, Calvo KR, Davis J, Deuitch NT, Dulau-Florea A, Patel N, Yu K, Sacco K, Bhattacharya S, Passi M, Ozkaya N, De Leon S, Chong S, Craft K, Diemer J, Bresciani E, O'Brien K, Andrews EJ, Park N, Hathaway L, Cowen EW, Heller T, Ryan K, Barochia A, Nghiem K, Niemela J, Rosenzweig S, Young DJ, Frischmeyer-Guerrerio PA, Braylan R, Liu PP
Blood 2023 Dec 21;142(25):2146-2158. doi: 10.1182/blood.2023019746. PMID: 37738626Free PMC Article
Functional characterization of a novel GFI1B mutation causing congenital macrothrombocytopenia.
Kitamura K, Okuno Y, Yoshida K, Sanada M, Shiraishi Y, Muramatsu H, Kobayashi R, Furukawa K, Miyano S, Kojima S, Ogawa S, Kunishima S
J Thromb Haemost 2016 Jul;14(7):1462-9. Epub 2016 Jun 13 doi: 10.1111/jth.13350. PMID: 27122003
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
Pathogenesis of hypoxemia.
Chantharaksri U, Tonsuwonnont W, Fucharoen S, Wasi P
Southeast Asian J Trop Med Public Health 1992;23 Suppl 2:32-5. PMID: 1298990
Platelet abnormalities in myeloproliferative disorders.
Holme S, Murphy S
Clin Lab Med 1990 Dec;10(4):873-88. PMID: 2272179

Clinical prediction guides

Natural history study of patients with familial platelet disorder with associated myeloid malignancy.
Cunningham L, Merguerian M, Calvo KR, Davis J, Deuitch NT, Dulau-Florea A, Patel N, Yu K, Sacco K, Bhattacharya S, Passi M, Ozkaya N, De Leon S, Chong S, Craft K, Diemer J, Bresciani E, O'Brien K, Andrews EJ, Park N, Hathaway L, Cowen EW, Heller T, Ryan K, Barochia A, Nghiem K, Niemela J, Rosenzweig S, Young DJ, Frischmeyer-Guerrerio PA, Braylan R, Liu PP
Blood 2023 Dec 21;142(25):2146-2158. doi: 10.1182/blood.2023019746. PMID: 37738626Free PMC Article
Screening platelet function in blood donors.
Pedini P, Baudey JB, Pouymayou K, Falaise C, Ibrahim-Kosta M, Vélier M, Demerle C, Graiet H, Dragutini C, Dombey AM, Chiaroni J, Alessi MC, Picard C
Transfusion 2022 Aug;62(8):1643-1651. Epub 2022 Jun 24 doi: 10.1111/trf.16990. PMID: 35748562Free PMC Article
Megakaryocytic emperipolesis and platelet function abnormalities in five patients with gray platelet syndrome.
Larocca LM, Heller PG, Podda G, Pujol-Moix N, Glembotsky AC, Pecci A, Alberelli MA, Balduini CL, Landolfi R, Cattaneo M, De Candia E
Platelets 2015;26(8):751-7. Epub 2015 Mar 25 doi: 10.3109/09537104.2014.994093. PMID: 25806575
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
Platelet abnormalities in myeloproliferative disorders.
Holme S, Murphy S
Clin Lab Med 1990 Dec;10(4):873-88. PMID: 2272179

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