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

Hemoglobin - 1 May 2024

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

Abstract excerpt

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...

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PMID: 38980105
DOI: 10.1080/03630269.2024.2335919

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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