Diamond Blackfan Anemia: A Nonclassical Patient with Diagnosis Assisted by Genomic Analysis

Orna Steinberg-Shemer, Siobán Keel, Orly Dgany, Tom Walsh, Sharon Noy-Lotan, Tanya Krasnov, Joanne Yacobovich, Paola Quarello, Ugo Ramenghi, Mary Claire King, Akiko Shimamura, Hannah Tamary

Research output: Contribution to journalArticlepeer-review

Abstract

Diamond Blackfan anemia (DBA) is an inherited syndrome usually presenting with severe macrocytic anemia in infancy, paucity of erythroid precursors in the bone marrow, and congenital anomalies. We describe a child with mild, transfusion independent normocytic anemia whose diagnosis of DBA was established by identification of a novel de novo mutation disrupting normal splicing of the ribosomal protein RPL5. The diagnosis of DBA was confirmed by elevated erythrocyte adenosine deaminase levels and an abnormal ribosomal RNA profile. This case demonstrates the usefulness of genomic analysis in establishing the diagnosis of DBA in patients with a nonclassical presentation of the disease.

Original languageEnglish
Pages (from-to)e260-e262
JournalJournal of Pediatric Hematology/Oncology
Volume38
Issue number7
DOIs
StatePublished - 1 Oct 2016
Externally publishedYes

Keywords

  • DBA
  • Diamond Blackfan anemia
  • high throughput sequencing
  • next-generation sequencing
  • targeted sequencing

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