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Molecular Basis and Genetic Modifiers of Thalassemia
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HBA2 is located closer to the primary regulatory element HS-40 and has promoter variants that enhance transcription, and HBA2 mRNA is generally more stable, contributing to its higher expression levels.
“This is partly because HBA2 is located closer to the primary regulatory element HS-40 and has promoter variants that enhance transcription. Additionally, HBA2 mRNA is generally more stable, contributing to its higher expression levels [15–17].”
From Importance of the 3′UTR region in globin synthesis: identification of two novel HBA1 mutations causing α-Thalassemia (2025) · cites this paper as [15]
The relatively low number of 3′UTR variants reported in HBA1 (only two) compared to HBA2 (eleven) may be due to higher transcriptional activity of HBA2, which is expressed 2-3 times more than HBA1.
“The relatively low number of 3′UTR variants reported in HBA1 (only two) compared to HBA2 (eleven) may be due to higher transcriptional activity of HBA2, which is expressed 2–3 times more than HBA1.”
From Importance of the 3′UTR region in globin synthesis: identification of two novel HBA1 mutations causing α-Thalassemia (2025) · cites this paper as [15]
Citations
Cites
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Weatherall, D. J. (2001) · Nature Reviews Genetics · doi:10.1038/35066048 · Cited by 692
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Transcription factors LRF and BCL11A independently repress expression of fetal hemoglobin
Masuda, T., Wang, X., Maeda, M., Canver, M. C., Sher, F., Funnell, A. P. W., Fisher, C., Suciu, M., Martyn, G. E., Norton, L. J., et al. (2016) · Science · doi:10.1126/science.aad3312 · Cited by 373
Self-citationKLF1 regulates BCL11A expression and γ- to β-globin gene switching
Zhou, D., Liu, K., Sun, C.-W., Pawlik, K. M., & Townes, T. M. (2010) · Nature Genetics · doi:10.1038/ng.637 · Cited by 367
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IS HEMOGLOBIN AN ESSENTIAL STRUCTURAL COMPONENT OF HUMAN ERYTHROCYTE MEMBRANES?*
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Cited by
Sorted by citations
Benito, S. F., Abío, M., Bardón-Cancho, E. J., Nieto, J. M., Ortega, B., González, F. A., Villegas, A., Benavente, C., & Ropero, P. (2025) · Annals of Hematology · doi:10.1007/s00277-025-06624-3 · Cited by 1
Metadata
- Authors
- Mettananda, S., & Higgs, D. R.
- Venue
- Hematology/Oncology Clinics of North America
- Publisher
- Elsevier BV
- Published
- 2018-04
- Volume
- 32
- Issue
- 2
- Pages
- 177-191
- ISSN
- 0889-8588
- Cited by
- 130
- References
- 9
- Language
- en
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