Ann Hematol (2017) 96:1589–1590 DOI 10.1007/s00277-017-3053-3 LETTER TO THE EDITOR Pregnancy in patients with thrombocytopenia and absent radii (TAR) syndrome 1,2 1 Robert T. Diep & Murat O. Arcasoy Received: 6 June 2017 /Accepted: 19 June 2017 /Published online: 20 July 2017 Springer-Verlag GmbH Germany 2017 Dear Editor, Laboratory values included WBC 19.3 × 10 /L, hemoglo- 9 9 Thrombocytopenia and absent radii (TAR) syndrome is a bin 11.2 g/dL, platelet count 26 × 10 /L (down from 50 × 10 / congenital disorder encountered in 1:100,000, characterized L just 6 weeks prior), and MCV 90 fL. Peripheral blood film by thrombocytopenia due to defective megakaryopoiesis, as- exam showed neutrophilia, thrombocytopenia, and no sociated with aplasia of the thin forearm bones, and cardiac schistocytes. Her liver function studies, prothrombin time, ac- abnormalities. Inheritance is autosomal recessive, often tivated partial thromboplastin time, fibrinogen, lactate dehy- resulting from compound heterozygous mutations in drogenase, and urinalysis were all normal. Bone marrow bi- RBM8A gene, with rare cases of parent-to-child transmission opsy was 80% cellular with severe megakaryocytic hypopla- [1–3]. While the management of prenatal and neonatal TAR sia. No dysplastic changes or increased blasts were noted syndrome is well documented in the
Annals of Hematology – Springer Journals
Published: Jul 20, 2017
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