Iranian Journal of Pediatrics

Published by: Kowsar

Inherited Thrombocytopenia with a Different Type of Gene Mutation: A Brief Literature Review and Two Case Studies

Mohammad Taghi Arzanian 1 , *
Author Information
1 Pediatric Hematologist-Oncologist, Congenital Hematological Disorders Research Center, Mofid Children’s Hospital, Shahid Beheshti University of Medical Sciences, Tehran, IR Iran
Article information
  • Iranian Journal of Pediatrics: October 2016, 26 (5); e4105
  • Published Online: July 18, 2016
  • Article Type: Case Report
  • Received: January 6, 2016
  • Revised: February 8, 2016
  • Accepted: March 9, 2016
  • DOI: 10.5812/ijp.4105

To Cite: Arzanian M T. Inherited Thrombocytopenia with a Different Type of Gene Mutation: A Brief Literature Review and Two Case Studies, Iran J Pediatr. 2016 ; 26(5):e4105. doi: 10.5812/ijp.4105.

Copyright © 2016, Growth & Development Research Center. This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International License ( which permits copy and redistribute the material just in noncommercial usages, provided the original work is properly cited.
1. Context
2. Evidence Acquisition
3. Results
4. Conclusions
  • 1. Drachman JG. Inherited thrombocytopenia: when a low platelet count does not mean ITP. Blood. 2004; 103(2): 390-8[DOI][PubMed]
  • 2. Bolton-Maggs PH, Chalmers EA, Collins PW, Harrison P, Kitchen S, Liesner RJ, et al. A review of inherited platelet disorders with guidelines for their management on behalf of the UKHCDO. Br J Haematol. 2006; 135(5): 603-33[DOI][PubMed]
  • 3. Cines DB, Bussel JB, McMillan RB, Zehnder JL. Congenital and acquired thrombocytopenia. 2004; 1: 390-406
  • 4. Stasi R. How to approach thrombocytopenia. 2012; 1: 191-7
  • 5. Al-Qahtani FS. Congenital amegakaryocytic thrombocytopenia: a brief review of the literature. Clin Med Insights Pathol. 2010; 3: 25-30[PubMed]
  • 6. Althaus K, Greinacher A. MYH9-related platelet disorders. Semin Thromb Hemost. 2009; 35(2): 189-203[DOI][PubMed]
  • 7. Balduini CL, Pecci A, Savoia A. Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias. Br J Haematol. 2011; 154(2): 161-74[DOI][PubMed]
  • 8. Pecci A, Gresele P, Klersy C, Savoia A, Noris P, Fierro T, et al. Eltrombopag for the treatment of the inherited thrombocytopenia deriving from MYH9 mutations. Blood. 2010; 116(26): 5832-7[DOI][PubMed]
  • 9. Ghauri RI, Naveed M, Mannan J. Congenital amegakaryocytic thrombocytopenic purpura (CAMT). J Coll Physicians Surg Pak. 2014; 24(4): 285-7[PubMed]
  • 10. Ballmaier M, Germeshausen M, Schulze H, Cherkaoui K, Lang S, Gaudig A, et al. c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia. Blood. 2001; 97(1): 139-46[PubMed]
  • 11. Notarangelo LD, Miao CH, Ochs HD. Wiskott-Aldrich syndrome. Curr Opin Hematol. 2008; 15(1): 30-6[DOI][PubMed]
  • 12. Jin Y, Mazza C, Christie JR, Giliani S, Fiorini M, Mella P, et al. Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation. Blood. 2004; 104(13): 4010-9[DOI][PubMed]
  • 13. Ariga T. Wiskott-Aldrich syndrome; an x-linked primary immunodeficiency disease with unique and characteristic features. Allergol Int. 2012; 61(2): 183-9[DOI][PubMed]
  • 14. Syrigos KN, Makrilia N, Neidhart J, Moutsos M, Tsimpoukis S, Kiagia M, et al. Prolonged survival after splenectomy in Wiskott-Aldrich syndrome: a case report. Ital J Pediatr. 2011; 37: 42[DOI][PubMed]
  • 15. Leblebisatan G, Bay A, Mitsuiki N, Ohara O, Honma K, Imai K, et al. Wiskott-Aldrich syndrome mutation in two Turkish siblings with X-linked thrombocytopenia. Turk J Haematol. 2011; 28(2): 139-41[DOI][PubMed]
  • 16. Lambert MP. What to do when you suspect an inherited platelet disorder? Hematol Am Soc Hematol Educ Program. 2011; 2011: 377-83
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