| Autor: |
Flaviene F. Torres, Victoria S. Bernardo, Danilo G.H. Silva, Jéssika V. Okumura, Claudia R. Bonini-Domingos |
| Jazyk: |
angličtina |
| Rok vydání: |
2022 |
| Předmět: |
|
| Zdroj: |
Hematology, Transfusion and Cell Therapy, Vol 44, Iss 2, Pp 156-162 (2022) |
| Druh dokumentu: |
article |
| ISSN: |
2531-1379 |
| DOI: |
10.1016/j.htct.2020.09.147 |
| Popis: |
Introduction: Studies have shown that the loss of the FOXO3 transcriptional function is involved in the pathophysiology of some chronic erythroid disorders, including beta-thalassemia (β-thal). Therefore, the single nucleotide polymorphism (SNP) rs3800231 (35-2764A > G) could contribute to alterations in its transcriptional activity, acting as a modifier of β-thal phenotypic manifestations. Objective and method: In order to better understand the genotypic and/or allelic distributions among β-thal patients, we evaluated 83 β-thal heterozygous and 20 homozygous, compared to 117 individuals without hemoglobinopathies (control group). Additionally, we verified any influence of the FOXO3 polymorphism on clinical manifestations among β-thal homozygotes. Results: We obtained higher frequencies of the wild-type homozygous (AA) and the wild-type allele (A) in the β-thal group (p |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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