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Abnormal alpha granule content

MedGen UID:
868469
Concept ID:
C4022863
Anatomical Abnormality
HPO: HP:0012527

Definition

A deviation from the normal contents of the platelet alpha granules, which normally contain hemostatic proteins such as fibrinogen, von Willebrand factor, and growth factors such as platelet-derived growth factor. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal alpha granule content

Conditions with this feature

Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
MedGen UID:
321945
Concept ID:
C1832388
Disease or Syndrome
RUNX1 familial platelet disorder with associated myeloid malignancies (RUNX1-FPDMM) is characterized by prolonged bleeding and/or easy bruising and an increased risk of developing a hematologic malignancy. RUNX1-FPDMM is characterized by thrombocytopenia with normal platelet size; bleeding is often greater than expected due to qualitative platelet dysfunction. Myeloid malignancies are the most common, including acute myelogenous leukemia (and myelodysplastic syndrome. T- and B-cell acute lymphoblastic leukemias and lymphomas have also been reported, as well as skin manifestations (e.g., eczema, psoriasis).

Professional guidelines

PubMed

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

Recent clinical studies

Etiology

Banushi B, Simpson F
Cells 2022 Nov 21;11(22) doi: 10.3390/cells11223702. PMID: 36429129Free PMC Article
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
Goetzl EJ, Goetzl L, Karliner JS, Tang N, Pulliam L
FASEB J 2016 May;30(5):2058-63. Epub 2016 Feb 12 doi: 10.1096/fj.201500150R. PMID: 26873936Free PMC Article
Rao AK, Jalagadugula G, Sun L
Semin Thromb Hemost 2004 Oct;30(5):525-35. doi: 10.1055/s-2004-835673. PMID: 15497095
D'Andrea G, Hasselmark L, Alecci M, Cananzi A, Perini F, Welch KM
J Neurol Neurosurg Psychiatry 1994 May;57(5):557-61. doi: 10.1136/jnnp.57.5.557. PMID: 8201323Free PMC Article

Diagnosis

Pluthero FG, Kahr WHA
Platelets 2023 Dec;34(1):2157808. doi: 10.1080/09537104.2022.2157808. PMID: 36572649
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
Maurer-Spurej E, Kahr WH, Carter CJ, Pittendreigh C, Cameron M, Cyr TD
Platelets 2008 Aug;19(5):342-51. doi: 10.1080/09537100802010547. PMID: 18791940
Emiliani C, Ciferri S, Mencarelli S, Mezzasoma AM, Momi S, Orlacchio A, Gresele P
Platelets 2006 Feb;17(1):20-9. doi: 10.1080/09537100500235958. PMID: 16308183
George JN
Prog Hemost Thromb 1991;10:97-126. PMID: 2008535

Therapy

Akhtar T, Ali G, Sheikh N
Oxid Med Cell Longev 2020;2020:8675275. Epub 2020 Mar 31 doi: 10.1155/2020/8675275. PMID: 32318243Free PMC Article
Zighetti ML, Fontana G, Lussana F, Chiesa V, Vignoli A, Canevini MP, Cattaneo M
Epilepsia 2015 May;56(5):e49-52. Epub 2015 Mar 11 doi: 10.1111/epi.12952. PMID: 25757394
Graham GJ, Ren Q, Dilks JR, Blair P, Whiteheart SW, Flaumenhaft R
Blood 2009 Jul 30;114(5):1083-90. Epub 2009 Apr 24 doi: 10.1182/blood-2009-03-210211. PMID: 19395672Free PMC Article
McBane RD 2nd, Karnicki K, Miller RS, Owen WG
Thromb Res 2004;113(2):137-45. doi: 10.1016/j.thromres.2004.02.007. PMID: 15115669
Dupuy E, Sigaux F, Bryckaert MC, Tobelem G, Castaigne S, Flandrin G, Degos L, Caen JP
Br J Haematol 1987 Jan;65(1):107-10. doi: 10.1111/j.1365-2141.1987.tb06143.x. PMID: 2949773

Prognosis

Wu Z, Shi R, Yan S, Zhang S, Lu B, Huang Z, Ji L
Phytomedicine 2024 Jun;128:155368. Epub 2024 Jan 17 doi: 10.1016/j.phymed.2024.155368. PMID: 38498951
Stevenson WS, Morel-Kopp MC, Chen Q, Liang HP, Bromhead CJ, Wright S, Turakulov R, Ng AP, Roberts AW, Bahlo M, Ward CM
J Thromb Haemost 2013 Nov;11(11):2039-47. doi: 10.1111/jth.12368. PMID: 23927492
McBane RD 2nd, Karnicki K, Miller RS, Owen WG
Thromb Res 2004;113(2):137-45. doi: 10.1016/j.thromres.2004.02.007. PMID: 15115669
Nuijens JH, Abbink JJ, Wachtfogel YT, Colman RW, Eerenberg AJ, Dors D, Kamp AJ, Strack van Schijndel RJ, Thijs LG, Hack CE
J Lab Clin Med 1992 Feb;119(2):159-68. PMID: 1740629
Frampton G, Parbtani A, Marchesi D, Duffus P, Livio M, Remuzzi G, Cameron JS
Kidney Int 1983 Mar;23(3):506-13. doi: 10.1038/ki.1983.48. PMID: 6405075

Clinical prediction guides

Wu Z, Shi R, Yan S, Zhang S, Lu B, Huang Z, Ji L
Phytomedicine 2024 Jun;128:155368. Epub 2024 Jan 17 doi: 10.1016/j.phymed.2024.155368. PMID: 38498951
Pluthero FG, Kahr WHA
Platelets 2023 Dec;34(1):2157808. doi: 10.1080/09537104.2022.2157808. PMID: 36572649
Stevenson WS, Morel-Kopp MC, Chen Q, Liang HP, Bromhead CJ, Wright S, Turakulov R, Ng AP, Roberts AW, Bahlo M, Ward CM
J Thromb Haemost 2013 Nov;11(11):2039-47. doi: 10.1111/jth.12368. PMID: 23927492
Janeway CM, Rivard GE, Tracy PB, Mann KG
Blood 1996 May 1;87(9):3571-8. PMID: 8611679
Berger G, Caen JP, Berndt MC, Cramer EM
Blood 1993 Nov 15;82(10):3034-44. PMID: 7693034

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