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

Stefni RavichandranMarianne HoffmannJesper PetersenLene SjøAndreas Ørslev RasmussenAnnetta EidesgaardAndreas Glenthoej
Published in: Hemoglobin (2024)
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.
Keyphrases
  • rare case
  • peripheral blood
  • bone marrow
  • case report
  • mental health
  • sickle cell disease
  • mesenchymal stem cells
  • single cell
  • cell therapy