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Abnormal megakaryocyte morphology

MedGen UID:
868626
Concept ID:
C4023026
Finding
Synonym: Abnormality of cells of the megakaryocyte lineage
 
HPO: HP:0012143

Definition

Any structural anomaly of megakaryocytes. Mature blood platelets are released from the cytoplasm of megakaryocytes, which are bone-marrow resident cells. [from HPO]

Conditions with this feature

Thrombocytopenia 3
MedGen UID:
437174
Concept ID:
C2678311
Disease or Syndrome
Thrombocytopenia-3 (THC3) is an autosomal recessive hematologic disorder characterized by onset of small-platelet thrombocytopenia in infancy. Patients may show variable bleeding tendency, manifest as petechiae, epistaxis, or heavy menstrual bleeding (summary by Levin et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of thrombocytopenia, see 313900.

Professional guidelines

PubMed

Tefferi A, Vannucchi AM, Barbui T
Am J Hematol 2024 Apr;99(4):697-718. Epub 2024 Jan 25 doi: 10.1002/ajh.27216. PMID: 38269572
Patnaik MM, Tefferi A
Am J Hematol 2021 Mar 1;96(3):379-394. Epub 2021 Jan 28 doi: 10.1002/ajh.26090. PMID: 33428785
Maali A, Atashi A, Ghaffari S, Kouchaki R, Abdolmaleki F, Azad M
Curr Stem Cell Res Ther 2018;13(8):665-675. doi: 10.2174/1574888X13666180731155038. PMID: 30068283

Recent clinical studies

Etiology

Tripathi AK, Mishra S, Kumar A, Yadav D, Shukla A, Yadav Y
Platelets 2014;25(7):526-31. Epub 2013 Nov 18 doi: 10.3109/09537104.2013.845875. PMID: 24246033
Jantunen R, Juvonen E, Ikkala E, Oksanen K, Anttila P, Hormila P, Jansson SE, Kekomäki R, Ruutu T
Ann Hematol 1998 Sep;77(3):101-6. doi: 10.1007/s002770050423. PMID: 9797078

Diagnosis

Mariani RA, Jennings L, Zhang S, Bhat R, Gong S
J Pediatr Hematol Oncol 2021 Aug 1;43(6):e819-e825. doi: 10.1097/MPH.0000000000002149. PMID: 33769390
Tripathi AK, Mishra S, Kumar A, Yadav D, Shukla A, Yadav Y
Platelets 2014;25(7):526-31. Epub 2013 Nov 18 doi: 10.3109/09537104.2013.845875. PMID: 24246033
Mahabir VK, Ross C, Popovic S, Sur ML, Bourgeois J, Lim W, George JN, Wang G, Cook RJ, Toltl LJ, Nazi I, Kelton JG, Arnold DM
Eur J Haematol 2013 Feb;90(2):121-6. Epub 2012 Dec 13 doi: 10.1111/ejh.12041. PMID: 23140198Free PMC Article
Jantunen R, Juvonen E, Ikkala E, Oksanen K, Anttila P, Hormila P, Jansson SE, Kekomäki R, Ruutu T
Ann Hematol 1998 Sep;77(3):101-6. doi: 10.1007/s002770050423. PMID: 9797078
Menke DM, Colon-Otero G, Cockerill KJ, Jenkins RB, Noel P, Pierre RV
Am J Clin Pathol 1992 Nov;98(5):502-10. doi: 10.1093/ajcp/98.5.502. PMID: 1485603

Therapy

Tripathi AK, Mishra S, Kumar A, Yadav D, Shukla A, Yadav Y
Platelets 2014;25(7):526-31. Epub 2013 Nov 18 doi: 10.3109/09537104.2013.845875. PMID: 24246033
Mahabir VK, Ross C, Popovic S, Sur ML, Bourgeois J, Lim W, George JN, Wang G, Cook RJ, Toltl LJ, Nazi I, Kelton JG, Arnold DM
Eur J Haematol 2013 Feb;90(2):121-6. Epub 2012 Dec 13 doi: 10.1111/ejh.12041. PMID: 23140198Free PMC Article
Breeden JH, Vollmer JT, Twomey PL
Cancer 1982 Nov 1;50(9):1728-33. doi: 10.1002/1097-0142(19821101)50:9<1728::aid-cncr2820500913>3.0.co;2-n. PMID: 7116300

Prognosis

Tripathi AK, Mishra S, Kumar A, Yadav D, Shukla A, Yadav Y
Platelets 2014;25(7):526-31. Epub 2013 Nov 18 doi: 10.3109/09537104.2013.845875. PMID: 24246033
Mahabir VK, Ross C, Popovic S, Sur ML, Bourgeois J, Lim W, George JN, Wang G, Cook RJ, Toltl LJ, Nazi I, Kelton JG, Arnold DM
Eur J Haematol 2013 Feb;90(2):121-6. Epub 2012 Dec 13 doi: 10.1111/ejh.12041. PMID: 23140198Free PMC Article
Jantunen R, Juvonen E, Ikkala E, Oksanen K, Anttila P, Hormila P, Jansson SE, Kekomäki R, Ruutu T
Ann Hematol 1998 Sep;77(3):101-6. doi: 10.1007/s002770050423. PMID: 9797078

Clinical prediction guides

Mariani RA, Jennings L, Zhang S, Bhat R, Gong S
J Pediatr Hematol Oncol 2021 Aug 1;43(6):e819-e825. doi: 10.1097/MPH.0000000000002149. PMID: 33769390
Tripathi AK, Mishra S, Kumar A, Yadav D, Shukla A, Yadav Y
Platelets 2014;25(7):526-31. Epub 2013 Nov 18 doi: 10.3109/09537104.2013.845875. PMID: 24246033
Mahabir VK, Ross C, Popovic S, Sur ML, Bourgeois J, Lim W, George JN, Wang G, Cook RJ, Toltl LJ, Nazi I, Kelton JG, Arnold DM
Eur J Haematol 2013 Feb;90(2):121-6. Epub 2012 Dec 13 doi: 10.1111/ejh.12041. PMID: 23140198Free PMC Article
Jantunen R, Juvonen E, Ikkala E, Oksanen K, Anttila P, Hormila P, Jansson SE, Kekomäki R, Ruutu T
Ann Hematol 1998 Sep;77(3):101-6. doi: 10.1007/s002770050423. PMID: 9797078

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