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

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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.

I: Hemoglobin, 2024.

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt

Harvard

Ravichandran, S, Hoffmann, M, Petersen, J, Sjø, L, Rasmussen, AØ, Eidesgaard, A & Glenthøj, A 2024, 'A Rare Case of De Novo Beta-Thalassemia Diagnosed by Whole-Genome Sequencing in an Ethnically Danish Newborn', Hemoglobin. https://doi.org/10.1080/03630269.2024.2335919

APA

Ravichandran, S., Hoffmann, M., Petersen, J., Sjø, L., Rasmussen, A. Ø., Eidesgaard, A., & Glenthøj, A. (Accepteret/In press). A Rare Case of De Novo Beta-Thalassemia Diagnosed by Whole-Genome Sequencing in an Ethnically Danish Newborn. Hemoglobin. https://doi.org/10.1080/03630269.2024.2335919

Vancouver

Ravichandran S, Hoffmann M, Petersen J, Sjø L, Rasmussen AØ, Eidesgaard A o.a. A Rare Case of De Novo Beta-Thalassemia Diagnosed by Whole-Genome Sequencing in an Ethnically Danish Newborn. Hemoglobin. 2024. https://doi.org/10.1080/03630269.2024.2335919

Author

Ravichandran, Stefni ; Hoffmann, Marianne ; Petersen, Jesper ; Sjø, Lene ; Rasmussen, Andreas Ørslev ; Eidesgaard, Annetta ; Glenthøj, Andreas. / A Rare Case of De Novo Beta-Thalassemia Diagnosed by Whole-Genome Sequencing in an Ethnically Danish Newborn. I: Hemoglobin. 2024.

Bibtex

@article{cf76803a0f20417aacf83b5646406dc5,

title = "A Rare Case of De Novo Beta-Thalassemia Diagnosed by Whole-Genome Sequencing in an Ethnically Danish Newborn",

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.",

keywords = "children, thalassemia, transfusion, transplantation",

author = "Stefni Ravichandran and Marianne Hoffmann and Jesper Petersen and Lene Sj{\o} and Rasmussen, {Andreas {\O}rslev} and Annetta Eidesgaard and Andreas Glenth{\o}j",

note = "Publisher Copyright: {\textcopyright} 2024 The Author(s). Published by Informa UK Limited, trading as Taylor & Francis Group.",

year = "2024",

doi = "10.1080/03630269.2024.2335919",

language = "English",

journal = "Hemoglobin",

issn = "0363-0269",

publisher = "Taylor & Francis",

}

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

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