Chronic steroid-response pancytopenia and increased bone density due to thromboxane synthase deficiency

Richa Sharma, Elizabeth Sierra Potchanant, Jennifer E. Schwartz, Grzegorz Nalepa

Research output: Contribution to journalArticlepeer-review

2 Scopus citations

Abstract

Diagnosis of bone marrow failure (BMF) disorders is challenging but essential for optimal patient management. Here, we report a young adult from nonconsanguineous parents with progressive pancytopenia since childhood, bone pain, increased bone density, and haphazard ossification replacing hematopoiesis within the bone marrow. Sequencing revealed two novel biallelic variants of unknown significance within the thromboxane A synthase gene, TBXAS1 (c.266T > C; c.989T > C), bioinformatically predicted to disrupt the protein. TBXAS1 mutations result in Ghosal hematodiaphyseal dysplasia (OMIM 231095), the autosomal recessive syndrome associated with abnormal bone structure and BMF. Identification of the genetic defect prompted steroid therapy leading to resolution of symptoms.

Original languageEnglish (US)
Article numbere26777
JournalPediatric Blood and Cancer
Volume65
Issue number1
DOIs
StatePublished - Jan 2018

Keywords

  • Ghosal hematodiaphyseal dysplasia (GHDD)
  • TBXAS1
  • bone marrow failure
  • pancytopenia

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Hematology
  • Oncology

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