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

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

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

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Springer Berlin Heidelberg
Copyright © 2017 by Springer-Verlag GmbH Germany
Medicine & Public Health; Hematology; Oncology
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