A Rare Case of De Novo Beta-Thalassemia Diagnosed by Whole-Genome Sequencing in an Ethnically Danish Newborn.
Hemoglobin
; : 1-4, 2024 Jul 09.
Article
em En
| MEDLINE
| ID: mdl-38980105
ABSTRACT
In 2020, a 2-month-old ethnically Danish girl was diagnosed with ß-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 HBBc.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.
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MEDLINE
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En
Ano de publicação:
2024
Tipo de documento:
Article