A Rare Case of <i>De Novo</i> Beta-Thalassemia Diagnosed by Whole-Genome Sequencing in an Ethnically Danish Newborn-Reference-Cited by-同舟云学术

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

Published:2024-07-09 Issue: Volume: Page:1-4
ISSN:0363-0269
Container-title:Hemoglobin
language:en
Short-container-title:Hemoglobin

Author:

Ravichandran Stefni¹^ORCID,Hoffmann Marianne¹^ORCID,Petersen Jesper²^ORCID,Sjø Lene³,Rasmussen Andreas Ørslev⁴,Eidesgaard Annetta⁴,Glenthøj Andreas²⁵^ORCID

Affiliation:

1. Department of Pediatrics and Adolescent Medicine, Copenhagen University Hospital, Rigshospitalet, Denmark

2. Danish Red Blood Cell Center, Department of Hematology, Copenhagen University Hospital, Rigshospitalet, Denmark

3. Department of Pathology, Copenhagen University Hospital, Rigshospitalet, Denmark

4. Department of Genomic Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark

5. Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark

Funder

Rigshospitalet’s Research Foundation to AG

Publisher

Informa UK Limited

Link

https://www.tandfonline.com/doi/pdf/10.1080/03630269.2024.2335919

Reference23 articles.

1. Current status of beta‐thalassemia and its treatment strategies

2. Beta-thalassemia

Prevalence of Congenital Hemolytic Disorders in Denmark, 2000–2016

4. Facilitating EMA binding test performance using fluorescent beads combined with next‐generation sequencing

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