A single-center cohort study of patients with hereditary spherocytosis in Central Europe reveals a high frequency of novel disease-causing genotypes

Leo Kager; Raúl Jimenez-Heredia; Petra Zeitlhofer; Wolfgang Novak; Sebastian K Eder; Anna Segarra-Roca; Alexandra Frohne; Karin Nebral; Matthias Haimel; René Geyeregger; Katharina Roetzer-Londgin; Oskar A Haas; Kaan Boztug

doi:10.1002/hem3.31

A single-center cohort study of patients with hereditary spherocytosis in Central Europe reveals a high frequency of novel disease-causing genotypes

Hemasphere. 2024 Jan 26;8(1):e31. doi: 10.1002/hem3.31. eCollection 2024 Jan.

Authors

Leo Kager^{1

2}, Raúl Jimenez-Heredia^{2

3

4}, Petra Zeitlhofer⁵, Wolfgang Novak¹, Sebastian K Eder^{1

2}, Anna Segarra-Roca^{2

3}, Alexandra Frohne^{2

3}, Karin Nebral⁵, Matthias Haimel^{2

3

6}, René Geyeregger², Katharina Roetzer-Londgin^{2

5}, Oskar A Haas^{1

2

5}, Kaan Boztug^{1

2

3

4

6}

Affiliations

¹ St. Anna Children's Hospital Medical University of Vienna Vienna Austria.
² St. Anna Children's Cancer Research Institute (CCRI) Vienna Austria.
³ Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases Vienna Austria.
⁴ Department of Pediatrics and Adolescent Medicine Medical University of Vienna Vienna Austria.
⁵ Labdia Labordiagnostik Vienna Austria.
⁶ CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences Vienna Austria.

No abstract available