The data that support the findings of this study are available on request from the corresponding author. The data are not publicly available due to privacy or ethical restrictions.

References

1 J. Lou, Y. Ye, M. Sun, Y. Zhao, Y. Fu, and Y. Liu, “A Stepwise Haematological Screening and Whole-Exome Sequencing Reveal Multiple Mutations From SUPT5H Causing an Elevation of Hb A(2) From a Cohort of 47336 Individuals,” International Journal of Laboratory Hematology 45, no. 1 (February 2023): 90–95, https://doi.org/10.1111/ijlh.13959.
10.1111/ijlh.13959
PubMed Web of Science® Google Scholar
2 A. F. Theil, I. K. Mandemaker, E. van den Akker, et al., “Trichothiodystrophy Causative TFIIEbeta Mutation Affects Transcription in Highly Differentiated Tissue,” Human Molecular Genetics 26, no. 23 (December 2017): 4689–4698, https://doi.org/10.1093/hmg/ddx351.
10.1093/hmg/ddx351
CAS PubMed Web of Science® Google Scholar
3 C. Kuschal, E. Botta, D. Orioli, et al., “GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals With DNA Repair-Proficient Trichothiodystrophy,” American Journal of Human Genetics 98, no. 4 (April 2016): 627–642, https://doi.org/10.1016/j.ajhg.2016.02.008.
10.1016/j.ajhg.2016.02.008
CAS PubMed Web of Science® Google Scholar
4 T. H. Jaing, T. Y. Chang, S. H. Chen, C. W. Lin, Y. C. Wen, and C. C. Chiu, “Molecular Genetics of Beta-Thalassemia: A Narrative Review,” Medicine 100, no. 45 (November 2021): e27522, https://doi.org/10.1097/MD.0000000000027522.
10.1097/MD.0000000000027522
CAS PubMed Web of Science® Google Scholar
5 A. Achour, T. Koopmann, R. Castel, et al., “A New Gene Associated With a Beta-Thalassemia Phenotype: The Observation of Variants in SUPT5H,” Blood 136, no. 15 (October 2020): 1789–1793, https://doi.org/10.1182/blood.2020005934.
10.1182/blood.2020005934
PubMed Web of Science® Google Scholar
6 Z. Lin, X. Liang, X. Wei, et al., “SUPT5H Mutations Associated With Elevation of Hb A(2) Level: Identification of Two Novel Variants and Literature Review,” Gene 908 (May 2024): 148294, https://doi.org/10.1016/j.gene.2024.148294.
10.1016/j.gene.2024.148294
CAS PubMed Google Scholar
7 T. Charnay, M. Cerino, K. Gonnet, N. Bonello-Palot, M. P. Brechard, and C. Badens, “A Novel SUPT5H Variant Associated With a Beta-Thalassaemia Trait,” British Journal of Haematology 196, no. 6 (March 2022): e70–e71, https://doi.org/10.1111/bjh.17985.
10.1111/bjh.17985
PubMed Web of Science® Google Scholar
8 D. J. Martell, H. E. Merens, A. Caulier, et al., “RNA Polymerase II Pausing Temporally Coordinates Cell Cycle Progression and Erythroid Differentiation,” Developmental Cell 58, no. 20 (October 2023): 2112–2127, https://doi.org/10.1016/j.devcel.2023.07.018.
10.1016/j.devcel.2023.07.018
CAS PubMed Web of Science® Google Scholar
9 T. Taneda, W. Zhu, Q. Cao, et al., “Erythropoiesis Is Regulated by the Transcription Elongation Factor Foggy/Spt5 Through gata1 Gene Regulation,” Genes to Cells 16, no. 2 (February 2011): 231–242, https://doi.org/10.1111/j.1365-2443.2010.01481.x.
10.1111/j.1365-2443.2010.01481.x
CAS PubMed Web of Science® Google Scholar
10 S. Richards, N. Aziz, S. Bale, et al., “Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology,” Genetics in Medicine 17, no. 5 (May 2015): 405–424, https://doi.org/10.1038/gim.2015.30.
10.1038/gim.2015.30
PubMed Web of Science® Google Scholar
11 C. L. Harteveld, A. Achour, N. F. Fairuz Mohd Hasan, et al., “Loss-Of-Function Variants in SUPT5H as Modifying Factors in Beta-Thalassemia,” International Journal of Molecular Sciences 25, no. 16 (August 2024): 8928, https://doi.org/10.3390/ijms25168928.
10.3390/ijms25168928
CAS PubMed Web of Science® Google Scholar

Volume47, Issue3

June 2025

Pages 552-554

Novel Mutations in SUPT5H Gene Associated With Beta-Thalassemia Phenotype

Open Research

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Novel Mutations in SUPT5H Gene Associated With Beta-Thalassemia Phenotype

Open Research

Data Availability Statement

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