A Rare Case of De Novo Beta-Thalassemia Diagnosed by Whole-Genome Sequencing in an Ethnically Danish Newborn
Research output: Contribution to journal › Journal article › Research › peer-review
Standard
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.
In: Hemoglobin, 2024.Research output: Contribution to journal › Journal article › Research › peer-review
Harvard
APA
Vancouver
Author
Bibtex
}
RIS
TY - JOUR
T1 - A Rare Case of De Novo Beta-Thalassemia Diagnosed by Whole-Genome Sequencing in an Ethnically Danish Newborn
AU - Ravichandran, Stefni
AU - Hoffmann, Marianne
AU - Petersen, Jesper
AU - Sjø, Lene
AU - Rasmussen, Andreas Ørslev
AU - Eidesgaard, Annetta
AU - Glenthøj, Andreas
N1 - Publisher Copyright: © 2024 The Author(s). Published by Informa UK Limited, trading as Taylor & Francis Group.
PY - 2024
Y1 - 2024
N2 - 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.
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
U2 - 10.1080/03630269.2024.2335919
DO - 10.1080/03630269.2024.2335919
M3 - Journal article
C2 - 38980105
AN - SCOPUS:85197786041
JO - Hemoglobin
JF - Hemoglobin
SN - 0363-0269
ER -
ID: 398543605