Dominant inherited β-thalassemia intermedia in a Polish family due to a novel frameshift mutation in HBB

Pediatr Blood Cancer. 2023 Oct;70(10):e30511. doi: 10.1002/pbc.30511. Epub 2023 Jun 23.

Authors

Wolfgang Novak¹, Raute Sunder-Plassmann², Jakob Berner^{1

3}, Stefan Köhrer^{1

3}, Petra Zeitlhofer^{3

4}, Oskar A Haas^{1

4}, Julia Riedl⁵, Leo Kager^{1

3}, Christian Sillaber⁵

Affiliations

¹ Department of Pediatrics and Adolescent Medicine, St. Anna Children's Hospital, Medical University Vienna, Vienna, Austria.
² Department of Laboratory Medicine, Medical University of Vienna, Vienna, Austria.
³ St. Anna Children's Cancer Research Institute, Vienna, Austria.
⁴ Labdia Labordiagnostik, Vienna, Austria.
⁵ Division of Hematology, Department of Internal Medicine, Medical University of Vienna, Vienna, Austria.

PMID: 37353956
DOI: 10.1002/pbc.30511

No abstract available

Publication types

Letter

MeSH terms

Frameshift Mutation*
Humans
Mutation
Poland
beta-Globins / genetics
beta-Thalassemia* / genetics

Substances

beta-Globins