Abstract
AIM: This study aimed to evaluate the efficacy of thalidomide in transfusion-dependent β-thalassemia (TDT) patients and explore its association with CYP2C19 polymorphisms (rs12248560 and rs4244285). METHODS: Hemoglobin levels of 190 TDT patients were assessed at baseline and after 3, 6, and 12 months of thalidomide treatment. Patients were categorized into response groups based on Hb improvement. Genotyping of rs12248560 and rs4244285 was performed using Sanger sequencing. RESULTS: The Hb levels of study patients increased from baseline (6.6 ± 1.12 g/dL) to 12 months (8.0 ± 2.03 g/dL) of thalidomide treatment (p < 0.001). Thirty-five (36.8%) patients were excellent responders, 24 (25.3%) good, 12 (12.6%) partial, and 24 (25.3%) non-responders. The genotype patterns were as follows: 88 (46.3%) were CC, 84 (44.2%) were CT, and 18 (9.5%) were TT for rs12248560, while 74 (38.9%) were GG, 46 (45.3%) were GA, and 30 (15.8%) were AA for rs4244285. Response to thalidomide was significantly better in patients having minor allele T at rs12248560(p < 0.05). CONCLUSION: The findings suggest thalidomide as an effective option for TDT and highlight the potential role of CYP2C19 genetic variation in modulating treatment response.