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 language | English |
---|---|
Journal | Hemoglobin |
Volume | 48 |
Issue number | 3 |
Pages (from-to) | 196-199 |
Number of pages | 4 |
ISSN | 0363-0269 |
DOIs | |
Publication status | Published - 2024 |
Bibliographical note
Publisher Copyright:© 2024 The Author(s). Published by Informa UK Limited, trading as Taylor & Francis Group.
Keywords
- children
- thalassemia
- transfusion
- transplantation