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
PY - 2024/7/9
Y1 - 2024/7/9
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.
UR - http://www.scopus.com/inward/record.url?scp=85197786041&partnerID=8YFLogxK
U2 - 10.1080/03630269.2024.2335919
DO - 10.1080/03630269.2024.2335919
M3 - Journal article
C2 - 38980105
SN - 0363-0269
SP - 1
EP - 4
JO - Hemoglobin
JF - Hemoglobin
ER -