Novel LRF/ZBTB7A variants and known HbF-modulating SNPs in transfusion-dependent β-thalassemia
These results suggest LRF/ZBTB7A is a novel modifier of HbF. The discovery of the variants, against a backdrop of modest QTL effects, underscores its potential and warrants further functional investigation.
Authors
- Tuğba Karaman Mercan (ORCID: https://orcid.org/0000-0003-3341-9513)
- Erdal Kurtoğlu (ORCID: https://orcid.org/0000-0002-6867-6053)
- Yunus ARIKAN (ORCID: https://orcid.org/0000-0001-5585-6795)
- Merve Embel (ORCID: https://orcid.org/0000-0002-0490-7828)
Institutions
- Akdeniz University (TR)
- Yozgat Bozok Üniversitesi (TR)
- Antalya Eğitim ve Araştırma Hastanesi (TR)
Publication Details
- Journal
- BMC Medical Genomics
- Published
- 2025-12-18
- DOI
- https://doi.org/10.1186/s12920-025-02275-5
- Primary Topic
- Hemoglobinopathies and Related Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Bozok Üniversitesi