371
Views
10
CrossRef citations to date
0
Altmetric
case report

Correction of Severe Myelofibrosis, Impaired Platelet Functions and Abnormalities in a Patient with Gray Platelet Syndrome Successfully Treated by Stem Cell Transplantation

ORCID Icon, , , ORCID Icon, , , , , , , , & ORCID Icon show all
Pages 536-540 | Received 16 Jul 2019, Accepted 09 Aug 2019, Published online: 10 Sep 2019

References

  • Raccuglia G. Gray platelet syndrome. Am J Med 1971;51(6):818–828. doi:10.1016/0002-9343(71)90311-1.
  • Nurden AT, Nurden P. The gray platelet syndrome: clinical spectrum of the disease. Blood Rev 2007;21(1):21–36. doi:10.1016/j.blre.2005.12.003.
  • Pluthero FG, Paola JD, Carcao MD, Kahr WH. NBEAL2 mutations and bleeding in patients with gray platelet syndrome. Platelets 2018;29(6):632–635. doi:10.1080/09537104.2018.1478405.
  • Albers CA, Cvejic A, Favier R, Bouwmans EE, Alessi M-C, Bertone P, Jordan G, Kettleborough RNW, Kiddle G, Kostadima M, et al. Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome. Nat Genet 2011;43(8):735–737. doi:10.1038/ng.885.
  • Gunay-Aygun M, Falik-Zaccai TC, Vilboux T, Zivony-Elboum Y, Gumruk F, Cetin M, Khayat M, Boerkoel CF, Kfir N, Huang Y, et al. NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules. Nat Genet 2011;43(8):732–734. doi:10.1038/ng.883.
  • Kahr WH, Hinckley J, Li L, Schwertz H, Christensen H, Rowley JW, Pluthero FG, Urban D, Fabbro S, Nixon B, et al. Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome. Nat Genet 2011;43(8):738–740. doi:10.1038/ng.884.
  • Bottega R, Pecci A, De Candia E, Pujol-Moix N, Heller PG, Noris P, De Rocco D, Podda GM, Glembotsky AC, Cattaneo M, et al. Correlation between platelet phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and a-granule deficiency. Haematologica 2013;98(6):868–874. doi:10.3324/haematol.2012.075861.
  • Deppermann C, Nurden P, Nurden AT, Nieswandt B, Stegner D. The Nbeal2−/− mouse as a model for the gray platelet syndrome. Rare Dis 2013;1:e26561–4. doi:10.4161/rdis.26561.
  • Moratto D, Giliani S, Bonfim C, Mazzolari E, Fischer A, Ochs HD, Cant AJ, Thrasher AJ, Cowan MJ, Albert MH, et al. Long-term outcome and lineage-specific chimerism in 194 patients with Wiskott-Aldrich syndrome treated by hematopoietic cell transplantation in the period 1980–2009: an international collaborative study. Blood 2011;118(6):1675–1684. doi:10.1182/blood-2010-11-319376.
  • Oshima K, Imai K, Albert MH, Bittner TC, Strauss G, Filipovich AH, Morio T, Kapoor N, Dalal J, Schultz KR, et al. Hematopoietic stem cell transplantation for X-linked thrombocytopenia with mutations in the WAS gene. J Clin Immunol 2015;35(1):15–21. doi:10.1007/s10875-014-0105-5.
  • Ballmaier M, Germeshausen M. Congenital amegakaryocytic thrombocytopenia: clinical presentation, diagnosis, and treatment. Sem Thromb Haemos 2011;37(06):673–681. doi:10.1055/s-0031-1291377.
  • Rieger C, Rank A, Fiegl M, Tischer J, Schiel X, Ostermann H, Kolb H-J. Allogeneic stem cell transplantation as a new treatment option for patients with severe Bernard-Soulier Syndrome. Thromb Haemost 2006;95(1):190–191.
  • Katgi A, Ataca P, Kahraman S, Sevindik OG, Sonmez U, Solmaz SM, Piskin O, Demirkan F, Ozsan GH. Successful hematopoietic engraftment with gray platelets after allogeneic hematopoietic stem cell transplantation from gray platelet syndrome donor. Blood Coagul Fibrinolysis 2013;24(2):208–210. doi:10.1097/MBC.0b013e32835aefc2.
  • Kröger NM, Deeg JH, Olavarria E, Niederwieser D, Bacigalupo A, Barbui T, Rambaldi A, Mesa R, Tefferi A, Griesshammer M, et al. Indication and management of allogeneic stem cell transplantation in primary myelofibrosis: a consensus process by an EBMT/ELN international working group. Leukemia 2015;29(11):2126–2133. doi:10.1038/leu.2015.233.
  • Alchalby H, Yunus D-R, Zabelina T, Ayuk F, Kröger N. Incidence and risk factors of poor graft function after allogeneic stem cell transplantation for myelofibrosis. Bone Marrow Transplant 2016;51(9):1223–1227. doi:10.1038/bmt.2016.98.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.