Drug Repurposing: Hydroxyurea Therapy Improves the Transfusion-Free Interval in HbE/Beta-Thalassemia-Major Patients with the XmnI Polymorphism.
Genet Test Mol Biomarkers
; 25(8): 563-570, 2021 Aug.
Article
in En
| MEDLINE
| ID: mdl-34406845
ABSTRACT
Aims:
HbE/ß-thalassemia is the most prevalent form of severe ß-thalassemia in Asian countries. Hydroxyurea (HU) is the most common drug used for the management of sickle-cell anemia but not thalassemia. In this study, we aimed to assess clinical HU response among the Bengali HbE/ß-thalassemia patients with respect to the XmnI γGglobin polymorphism and elucidate the association between this polymorphism and HU response efficacy. Materials andMethods:
We enrolled 49 transfusion-dependent patients with HbE/ß-thalassemia. Fetal hemoglobin levels were measured using high-performance liquid chromatography and complete blood counts were determined pre- and post-HU therapy. Polymerase chain reaction-restriction fragment length polymorphism analyses were performed for genotyping the XmnI γGglobin polymorphism.Results:
A total of 30 (61.22%) patients were found to be responders, whereas the remaining 19 (38.78%) were nonresponders. We found 33 patients with the heterozygous (C/T) and three with the homozygous mutant (T/T) genotype status. We obtained a statistically significant correlation (p < 0.001) between the XmnI polymorphism genotype and transfusion-free interval. Patients with the XmnI polymorphism were found to be good responders for HU therapy and showed increased hemoglobin levels.Conclusions:
Our findings indicate that HU is a potential drug candidate for thalassemia management, particularly for HbE/ß-thalassemia. These results hold implications in repurposing HU as an effective and efficient therapy for HbE/ß-thalassemia.Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Beta-Thalassemia
/
Gamma-Globins
/
Hydroxyurea
Type of study:
Observational_studies
/
Risk_factors_studies
Limits:
Child
/
Female
/
Humans
/
Male
Country/Region as subject:
Asia
Language:
En
Journal:
Genet Test Mol Biomarkers
Journal subject:
BIOLOGIA MOLECULAR
/
GENETICA
Year:
2021
Document type:
Article
Affiliation country:
India