Thrombocytopenia-Absent Radius Syndrome Questions & Answers

1. Elmakky A, Stanghellini I, Landi A, Percesepe A. Role of Genetic Factors in the Pathogenesis of Radial Deficiencies in Humans. Curr Genomics. 2015 Aug. 16 (4):264-78. [QxMD MEDLINE Link]. [Full Text].

2. Wilson DB, Link DC, Mason PJ, Bessler M. Inherited bone marrow failure syndromes in adolescents and young adults. Ann Med. 2014 Sep. 46 (6):353-63. [QxMD MEDLINE Link]. [Full Text].

3. Toriello HV. Thrombocytopenia Absent Radius Syndrome. GeneRev. 2009 Dec 8 [updated 2016 Dec 8]. [QxMD MEDLINE Link]. [Full Text].

4. Ballmaier M, Schulze H, Strauss G, et al. Thrombopoietin in patients with congenital thrombocytopenia and absent radii: elevated serum levels, normal receptor expression, but defective reactivity to thrombopoietin. Blood. 1997 Jul 15. 90(2):612-9. [QxMD MEDLINE Link]. [Full Text].

5. Sekine I, Hagiwara T, Miyazaki H, et al. Thrombocytopenia with absent radii syndrome: studies on serum thrombopoietin levels and megakaryopoiesis in vitro. J Pediatr Hematol Oncol. 1998 Jan-Feb. 20(1):74-8. [QxMD MEDLINE Link].

6. Geddis AE. Congenital amegakaryocytic thrombocytopenia and thrombocytopenia with absent radii. Hematol Oncol Clin North Am. 2009 Apr. 23(2):321-31. [QxMD MEDLINE Link]. [Full Text].

7. Fleischman RA, Letestu R, Mi X, et al. Absence of mutations in the HoxA10, HoxA11 and HoxD11 nucleotide coding sequences in thrombocytopenia with absent radius syndrome. Br J Haematol. 2002 Feb. 116(2):367-75. [QxMD MEDLINE Link].

8. Klopocki E, Schulze H, Strauss G, et al. Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. Am J Hum Genet. 2007 Feb. 80(2):232-40. [QxMD MEDLINE Link].

9. Albers CA, Newbury-Ecob R, Ouwehand WH, Ghevaert C. New insights into the genetic basis of TAR (thrombocytopenia-absent radii) syndrome. Curr Opin Genet Dev. 2013 Jun. 23(3):316-23. [QxMD MEDLINE Link].

10. Albers CA, Paul DS, Schulze H, Freson K, Stephens JC, Smethurst PA. Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome. Nat Genet. 2012 Apr. 44(4):435-9, S1-2. [QxMD MEDLINE Link].

11. Le Hir H, Gatfield D, Izaurralde E, Moore MJ. The exon-exon junction complex provides a binding platform for factors involved in mRNA export and nonsense-mediated mRNA decay. EMBO J. 2001 Sep 3. 20(17):4987-97. [QxMD MEDLINE Link].

12. Le Hir H, Izaurralde E, Maquat LE, Moore MJ. The spliceosome deposits multiple proteins 20-24 nucleotides upstream of mRNA exon-exon junctions. EMBO J. 2000 Dec 15. 19(24):6860-9. [QxMD MEDLINE Link].

13. Manukjan G, Bosing H, Schmugge M, Strauss G, Schulze H. Impact of genetic variants on haematopoiesis in patients with thrombocytopenia absent radii (TAR) syndrome. Br J Haematol. 2017 Nov. 179 (4):606-17. [QxMD MEDLINE Link].

14. Hedberg VA, Lipton JM. Thrombocytopenia with absent radii. A review of 100 cases. Am J Pediatr Hematol Oncol. 1988 Spring. 10(1):51-64. [QxMD MEDLINE Link].

15. Greenhalgh KL, Howell RT, Bottani A, et al. Thrombocytopenia-absent radius syndrome: a clinical genetic study. J Med Genet. 2002 Dec. 39(12):876-81. [QxMD MEDLINE Link]. [Full Text].

16. Hall JG, Levin J, Kuhn JP, et al. Thrombocytopenia with absent radius (TAR). Medicine (Baltimore). 1969 Nov. 48(6):411-39. [QxMD MEDLINE Link].

17. Toriello HV. Thrombocytopenia-absent radius syndrome. Semin Thromb Hemost. 2011 Sep. 37(6):707-12. [QxMD MEDLINE Link].

18. Sachdev P. Brief psychosis in thrombocytopenia-absent radius syndrome: a case report. Aust N Z J Psychiatry. 2005 Sep. 39(9):841-2. [QxMD MEDLINE Link].

19. Skorka A, Bielicka-Cymermann J, Gieruszczak-Bialek D, Korniszewski L. Thrombocytopenia-absent radius (tar) syndrome: a case with agenesis of corpus callosum, hypoplasia of cerebellar vermis and horseshoe kidney. Genet Couns. 2005. 16(4):377-82. [QxMD MEDLINE Link].

20. Thompson AA, Nguyen LT. Amegakaryocytic thrombocytopenia and radio-ulnar synostosis are associated with HOXA11 mutation. Nat Genet. 2000 Dec. 26 (4):397-8. [QxMD MEDLINE Link].

21. Thompson AA, Woodruff K, Feig SA, Nguyen LT, Schanen NC. Congenital thrombocytopenia and radio-ulnar synostosis: a new familial syndrome. Br J Haematol. 2001 Jun. 113 (4):866-70. [QxMD MEDLINE Link].

22. Weinblatt M, Petrikovsky B, Bialer M, et al. Prenatal evaluation and in utero platelet transfusion for thrombocytopenia absent radii syndrome. Prenat Diagn. 1994 Sep. 14(9):892-6. [QxMD MEDLINE Link].

23. Coccia P, Ruggiero A, Mastrangelo S, Attinà G, Scalzone M, Pittiruti M, et al. Management of children with thrombocytopenia-absent radius syndrome: an institutional experience. J Paediatr Child Health. 2012 Feb. 48(2):166-9. [QxMD MEDLINE Link].

24. Dempfle CE, Burck C, Grutzmacher T et al. Increase in platelet count in response to rHuEpo in patient with thromboctopenia and absent radii syndrome. Blood. 2001. 97 (7):2189-90. [QxMD MEDLINE Link]. [Full Text].

25. Aquino VM, Mustafa MM, Vackus L et al. Recombinant interleukin-6 in the treatment of congenital thrombocytopenia associated with absent radii. J Pediatr Hematol Oncol. 1998. 20 (5):474-6. [QxMD MEDLINE Link].

26. Al Kaissi A, Girsch W, Kenis V, et al. Reconstruction of limb deformities in patients with thrombocytopenia-absent radius syndrome. Orthop Surg. 2015 Feb. 7 (1):50-6. [QxMD MEDLINE Link].

27. Jameson-Lee M, Chen K, Ritchie E, Shore T, Al-Khattab O, Gergis U. Acute myeloid leukemia in a patient with thrombocytopenia with absent radii: a case report and review of the literature. Hematol Oncol Stem Cell Ther. 2018 Dec. 11 (4):245-7. [QxMD MEDLINE Link]. [Full Text].

28. Nicchia E, Giordano P, Greco C, De Rocco D, Savoia A. Molecular diagnosis of thrombocytopenia-absent radius syndrome using next-generation sequencing. Int J Lab Hematol. 2016 Aug. 38 (4):412-8. [QxMD MEDLINE Link].

John K Wu, MBBS, MSc, FRCPC Clinical Professor, Department of Pediatrics, Division of Hematology-Oncology-BMT, University of British Columbia Faculty of Medicine, British Columbia Children's Hospital, Canada

John K Wu, MBBS, MSc, FRCPC is a member of the following medical societies: American Society of Hematology, International Society on Thrombosis and Haemostasis, Canadian Medical Association

Disclosure: Nothing to disclose.

Christopher Wu, MD Resident Physician, Department of Urology, McMaster University School of Medicine, Canada

Christopher Wu, MD is a member of the following medical societies: American Urological Association, Canadian Urological Association

Disclosure: Nothing to disclose.

Michelle P Wong, MD Staff Physician, Department of Hematopathology, University of British Columbia Faculty of Medicine, Canada

Disclosure: Nothing to disclose.

Suzan Williams, MD, MSc, FRCPC Staff Physician, Division of Hematology, The Hospital for Sick Children, Canada

Suzan Williams, MD, MSc, FRCPC is a member of the following medical societies: American Academy of Pediatrics, American Society of Hematology, Canadian Medical Association, Royal College of Physicians and Surgeons of Canada, Canadian Paediatric Society, College of Physicians and Surgeons of Ontario, Ontario Medical Association

Disclosure: Nothing to disclose.

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

James L Harper, MD Associate Professor, Department of Pediatrics, Division of Hematology/Oncology and Bone Marrow Transplantation, Associate Chairman for Education, Department of Pediatrics, University of Nebraska Medical Center; Associate Clinical Professor, Department of Pediatrics, Creighton University School of Medicine; Director, Continuing Medical Education, Children's Memorial Hospital; Pediatric Director, Nebraska Regional Hemophilia Treatment Center

James L Harper, MD is a member of the following medical societies: American Society of Pediatric Hematology/Oncology, American Federation for Clinical Research, Council on Medical Student Education in Pediatrics, Hemophilia and Thrombosis Research Society, American Academy of Pediatrics, American Association for Cancer Research, American Society of Hematology

Disclosure: Nothing to disclose.

Hassan M Yaish, MD Medical Director, Intermountain Hemophilia and Thrombophilia Treatment Center; Professor of Pediatrics, University of Utah School of Medicine; Director of Hematology, Pediatric Hematologist/Oncologist, Department of Pediatrics, Primary Children's Medical Center

Hassan M Yaish, MD is a member of the following medical societies: American Academy of Pediatrics, American Medical Association, American Society of Hematology, American Society of Pediatric Hematology/Oncology, Michigan State Medical Society, New York Academy of Sciences

Disclosure: Nothing to disclose.

J Martin Johnston, MD Associate Professor of Pediatrics, Mercer University School of Medicine; Director of Hematology/Oncology, The Children's Hospital at Memorial University Medical Center; Consulting Oncologist/Hematologist, St Damien's Pediatric Hospital

J Martin Johnston, MD is a member of the following medical societies: American Academy of Pediatrics, American Society of Pediatric Hematology/Oncology, International Society of Paediatric Oncology

Disclosure: Nothing to disclose.

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