Novel LRF/ZBTB7A variants and known HbF-modulating SNPs in transfusion-dependent β-thalassemia
Yunus Arikan, Tugba Karaman Mercan, Merve Embel, Erdal Kurtoglu · 2025
Read Novel LRF/ZBTB7A variants and known HbF-modulating SNPs in transfusion-dependent β-thalassemia by Yunus Arikan, Tugba Karaman Mercan, Merve Embel, Erdal Kurtoglu (2025) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-12713296.txt.
Description
Why the same blood disease hits some patients harder than others is partly a gene story, and a 2025 study by Yunus Arikan and co-authors hunts for more of those genes. The disease is beta-thalassemia, where patients need regular transfusions, and higher fetal hemoglobin levels are known to soften it.
The team checked known variant sites in three gene regions tied to fetal hemoglobin in patients, and confirmed their links. Guided by cell line data, they also read through a gene that helps switch globin genes, called LRF or ZBTB7A. There they found new rare variants. A combined score summed the effect of the five main modifier sites, offering a way to rank patients by their genetic buffer.
Catalog record
| CREATOR | Yunus Arikan, Tugba Karaman Mercan, Merve Embel, Erdal Kurtoglu |
|---|---|
| YEAR | 2025 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 30 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |