Annals of Hematology

, Volume 96, Issue 9, pp 1589–1590 | Cite as

Pregnancy in patients with thrombocytopenia and absent radii (TAR) syndrome

  • Robert T. DiepEmail author
  • Murat O. Arcasoy
Letter to the Editor

Dear Editor,

Thrombocytopenia and absent radii (TAR) syndrome is a congenital disorder encountered in 1:100,000, characterized by thrombocytopenia due to defective megakaryopoiesis, associated with aplasia of the thin forearm bones, and cardiac abnormalities. Inheritance is autosomal recessive, often resulting from compound heterozygous mutations in RBM8A gene, with rare cases of parent-to-child transmission [ 1, 2, 3]. While the management of prenatal and neonatal TAR syndrome is well documented in the literature, the pregnancy course and the optimal peripartum management of mothers with TAR syndrome are not as defined. There are less than ten reported pregnancies in patients with TAR syndrome in the literature (Table 1). We are writing to discuss a case detailing the hematologic evaluation and management of a primigravid woman with TAR syndrome.
Table 1

Published pregnancies in patients with TAR syndrome [4, 5, 6, 7, 8, 9]


Pregnancy count

Peripartum management



Compliance with ethical standards

Informed consent

Informed consent was obtained from all patients for being included in the study.

Conflict of interest

The authors declare that they have no conflict of interest.


  1. 1.
    Greenhalgh KL, Howell RT, Bottani A, Ancliff PJ, Brunner HG, Verschuuren-Bemelmans CC, Vernon E, Brown KW, Newbury-Ecob RA (2002) Thrombocytopenia-absent radius syndrome: a clinical genetic study. J Med Genet 39(12):876–881CrossRefPubMedPubMedCentralGoogle Scholar
  2. 2.
    Toriello HV (1993) Thrombocytopenia absent radius syndrome. In: Pagon RA, Adam MP, Ardinger HH et al. (eds) GeneReviews(R). Seattle (WA)Google Scholar
  3. 3.
    Ward RE, Bixler D, Provisor AJ, Bader P (1986) Parent to child transmission of the thrombocytopenia absent radius (TAR) syndrome. Am J Med Genet Suppl 2:207–214CrossRefPubMedGoogle Scholar
  4. 4.
    Hall JG, Levin J, Kuhn JP, Ottenheimer EJ, van Berkum KA, McKusick VA (1969) Thrombocytopenia with absent radius (TAR). Medicine (Baltimore) 48(6):411–439CrossRefGoogle Scholar
  5. 5.
    Turner RJ, Spencer RA, Miyazawa K (1986) Successful cesarean section in a gravida with the thrombocytopenia with absent radius syndrome. A case report. J Reprod Med 31(4):260–262PubMedGoogle Scholar
  6. 6.
    Lynch JC, McCaul CL (2008) Management of a parturient with thrombocytopenia-absent-radius syndrome undergoing urgent caesarean section. Int J Obstet Anesth 17(1):74–77. doi: 10.1016/j.ijoa.2007.07.004 CrossRefPubMedGoogle Scholar
  7. 7.
    Wax JR, Crabtree C, Blackstone J, Pinette MG, Cartin A (2009) Maternal thrombocytopenia-absent radius syndrome complicated by severe pre-eclampsia. J Matern Fetal Neonatal Med 22(2):175–177. doi: 10.1080/14767050802524578 CrossRefPubMedGoogle Scholar
  8. 8.
    Gauthama P, Maybury H, Brooks H (2011) Management of a parturient with TAR syndrome during caesarean section and the use of thromboelastography. Int J Obstet Anesth 20(4):368–369. doi: 10.1016/j.ijoa.2011.07.004 CrossRefPubMedGoogle Scholar
  9. 9.
    Bot-Robin V, Vaast P, Deruelle P (2011) Exacerbation of thrombocytopenia in a pregnant woman with thrombocytopenia-absent radius syndrome. Int J Gynaecol Obstet 114(1):77–78. doi: 10.1016/j.ijgo.2011.01.019 CrossRefPubMedGoogle Scholar
  10. 10.
    Gernsheimer T, James AH, Stasi R (2013) How I treat thrombocytopenia in pregnancy. Blood 121(1):38–47. doi: 10.1182/blood-2012-08-448944 CrossRefPubMedGoogle Scholar
  11. 11.
    Ballmaier M, Schulze H, Strauss G, Cherkaoui K, Wittner N, Lynen S, Wolters S, Bogenberger J, Welte K (1997) Thrombopoietin in patients with congenital thrombocytopenia and absent radii: elevated serum levels, normal receptor expression, but defective reactivity to thrombopoietin. Blood 90(2):612–619PubMedGoogle Scholar
  12. 12.
    Letestu R, Vitrat N, Masse A, Le Couedic JP, Lazar V, Rameau P, Wendling F, Vuillier J, Boutard P, Plouvier E, Plasse M, Favier R, Vainchenker W, Debili N (2000) Existence of a differentiation blockage at the stage of a megakaryocyte precursor in the thrombocytopenia and absent radii (TAR) syndrome. Blood 95(5):1633–1641PubMedGoogle Scholar

Copyright information

© Springer-Verlag GmbH Germany 2017

Authors and Affiliations

  1. 1.Department of MedicineDuke University School of MedicineDurhamUSA
  2. 2.Duke University Health System, DUMC 3912DurhamUSA

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