A novel 17.9 kb deletion of the beta-globin gene causing beta-thalassemia trait in a Danish male
We present a novel large deletion of the HBB gene causing beta-thalassemia trait detected in an ethnically Danish male. Thalassemia must be considered in patients with microcytosis of unknown cause despite a Northern European ethnicity.
Authors
- Helle Pilgaard Kristiansen
- Peter H. Nissen (ORCID: https://orcid.org/0000-0002-8201-1306)
- Peter Kalum Schou (ORCID: https://orcid.org/0000-0003-1194-5600)
- Anne Winther‐Larsen (ORCID: https://orcid.org/0000-0002-2763-595X)
- Jesper Petersen (ORCID: https://orcid.org/0000-0001-6116-5114)
Institutions
- Aarhus University Hospital (DK)
- Copenhagen University Hospital (DK)
- Regional Hospital Horsens (DK)
Publication Details
- Journal
- Clinical Biochemistry
- Published
- 2025-10-30
- DOI
- https://doi.org/10.1016/j.clinbiochem.2025.111035
- Primary Topic
- Hemoglobinopathies and Related Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00