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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

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
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
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
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
Flavonoids and Platelet-Derived Thrombotic Disorders.
Lopez JJ, El Haouari M, Jardin I, Alonso N, Regodon S, Diez-Bello R, Redondo PC, Rosado JA
Curr Med Chem 2019;26(39):7035-7047. doi: 10.2174/0929867325666180417170218. PMID: 29667548
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
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
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
Inherited platelet disorders.
Handin RI
Hematology Am Soc Hematol Educ Program 2005:396-402. doi: 10.1182/asheducation-2005.1.396. PMID: 16304410
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

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
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
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
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

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
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
Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome.
Kahr WH, Hinckley J, Li L, Schwertz H, Christensen H, Rowley JW, Pluthero FG, Urban D, Fabbro S, Nixon B, Gadzinski R, Storck M, Wang K, Ryu GY, Jobe SM, Schutte BC, Moseley J, Loughran NB, Parkinson J, Weyrich AS, Di Paola J
Nat Genet 2011 Jul 17;43(8):738-40. doi: 10.1038/ng.884. PMID: 21765413Free PMC Article
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
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

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
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
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
Abnormal aggregation accompanies abnormal platelet Ca2+ handling in arterial thrombosis.
Shanbaky NM, Ahn Y, Jy W, Harrington W, Fernandez L, Haynes DH
Thromb Haemost 1987 Feb 3;57(1):1-10. PMID: 3109054
Platelet microtubules and giant granules in the Chediak-Higashi syndrome.
White JG
Am J Med Technol 1978 Apr;44(4):273-8. PMID: 206143

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