Department of Pediatric Hematology/Oncology, Hematology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.
Department of Medical Genetics, Shiraz Infertility Treatment, Shiraz, Iran.
Hemoglobin. 2020 Nov;44(6):406-410. doi: 10.1080/03630269.2020.1845722. Epub 2020 Nov 8.
Hydroxyurea (HU) activates the γ-globin gene, resulting in increased Hb F synthesis. The gene is a member of the Sox (Sry-type HMG box) family of transcription factors, characterized by minor groove binding domain. The DNA binding domain of this gene is encoded by exon 14. We assessed the relationship between response to HU and exon 14 of the gene sequence variations in patients with non transfusion-dependent thalassemia (NTDT). One hundred NTDT patients from southern Iran underwent HU therapy randomly participated in this cross-sectional study between February 2013 and October 2014. Based on response to HU therapy, the patients were divided into two groups: good and poor responder. Sequence variations of exon 14 of the gene was assayed by the Sanger sequencing technique. From all evaluated single nucleotide polymorphisms (SNPs) as above, we found no significant association between sequence variations of exon 14 of the gene and response to HU therapy ( > 0.05). It seems that no SNPs in exon 14 of the gene is associated with response to HU in NTDT patients, but more studies are needed for further evaluation.
羟脲（HU）激活γ-珠蛋白基因，导致 HbF 合成增加。该基因是 Sox（Sry 型 HMG 盒）转录因子家族的成员，其特征是小沟结合域。该基因的 DNA 结合域由外显子 14 编码。我们评估了非输血依赖型地中海贫血（NTDT）患者对 HU 反应与基因序列变异之间的关系。来自伊朗南部的 100 名 NTDT 患者在 2013 年 2 月至 2014 年 10 月期间随机参加了这项横断面研究。根据 HU 治疗反应，患者被分为两组：良好反应者和不良反应者。通过 Sanger 测序技术检测基因外显子 14 的序列变异。在所评估的所有单核苷酸多态性（SNP）中，我们没有发现基因外显子 14 的序列变异与 HU 治疗反应之间存在显著相关性（>0.05）。似乎基因外显子 14 中的没有 SNP 与 NTDT 患者对 HU 的反应有关，但需要进一步评估。
