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

doi:10.1080/03630269.2024.2335919

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 af dette arbejde

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

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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.

Originalsprog	Engelsk
Tidsskrift	Hemoglobin
Vol/bind	48
Udgave nummer	3
Sider (fra-til)	196-199
Antal sider	4
ISSN	0363-0269
DOI	https://doi.org/10.1080/03630269.2024.2335919
Status	Udgivet - 2024

Bibliografisk note

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

Adgang til dokumentet

10.1080/03630269.2024.2335919Licens: CC BY

FulltextForlagets udgivne version, 2,14 MBLicens: CC BY

Citationsformater

A Rare Case of De Novo Beta-Thalassemia Diagnosed by Whole-Genome Sequencing in an Ethnically Danish Newborn. / Ravichandran, Stefni; Hoffmann, Marianne; Petersen, Jesper; Sjø, Lene; Rasmussen, Andreas Ørslev; Eidesgaard, Annetta; Glenthøj, Andreas.

I: Hemoglobin, Bind 48, Nr. 3, 2024, s. 196-199.

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

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AU - Ravichandran, Stefni

AU - Hoffmann, Marianne

AU - Petersen, Jesper

AU - Sjø, Lene

AU - Rasmussen, Andreas Ørslev

AU - Eidesgaard, Annetta

AU - Glenthøj, Andreas

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AB - 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.

KW - children

KW - thalassemia

KW - transfusion

KW - transplantation

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