A Rare Case of De Novo Beta-Thalassemia Diagnosed by Whole-Genome Sequencing in an Ethnically Danish Newborn

Stefni Ravichandran, Marianne Hoffmann, Jesper Petersen, Lene Sjø, Andreas Ørslev Rasmussen, Annetta Eidesgaard, Andreas Glenthøj*

*Corresponding author for this work

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Abstract

In 2020, a 2-month-old ethnically Danish girl was diagnosed with β-thalassemia after presenting with persistent jaundice. The peripheral blood smear showed significant aniso- and poikilocytosis, increased number of reticulocytes and erythroblastosis. Trio analysis of the index patient and both parents was performed by whole-genome sequencing. Here, both parents were found normal, however the analysis revealed an apparently de novo HBB:c.444A > C variant in the child. The child has recently been discharged three months after a successful bone marrow transplantation with a matched sibling-donor.

Original languageEnglish
JournalHemoglobin
Volume48
Issue number3
Pages (from-to)196-199
Number of pages4
ISSN0363-0269
DOIs
Publication statusPublished - 2024

Bibliographical note

Publisher Copyright:
© 2024 The Author(s). Published by Informa UK Limited, trading as Taylor & Francis Group.

Keywords

  • children
  • thalassemia
  • transfusion
  • transplantation

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