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A novel nucleotide substitution in the 5′ untranslated region of ANKRD26 gene is associated with inherited thrombocytopenia: a report of two new families

  • Robert T. Diep
  • Kristin Corey
  • Murat O. ArcasoyEmail author
Letter to the Editor
  • 77 Downloads

Dear Editor,

Inherited thrombocytopenias (IT) constitute a rare etiology of thrombocytopenia and consist of a heterogenous group of hemostatic disorders caused by molecular defects in over 30 genes [1]. Approximately 18% of inherited thrombocytopenias are caused by monoallelic point mutations in ankyrin repeat domain 26 gene (ANKRD26), also termed thrombocytopenia-2 (THC2 OMIM 188000), with autosomal dominant transmission and increased predisposition for myeloid neoplasms [2]. We describe two IT cases presenting during pregnancy, one of whom harbored a novel, pathogenic nucleotide substitution in ANKRD26 gene 5′ untranslated region (UTR).

Case 1

A 32-year-old woman was evaluated for chronic thrombocytopenia, platelet counts ranging from 39 to 50 × 109/L, associated with easy bruising. Thrombocytopenia had been recognized early during her first pregnancy at age 23, platelet count declining to 21 × 109/L during gestation, without response to high-dose corticosteroids and IVIG for...

Notes

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflicts of interest.

Informed consent

Informed consent was obtained from all individual participants in the study.

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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Division of Hematology, Department of Medicine and Duke Cancer InstituteDuke University School of MedicineDurhamUSA

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