β-Thalassemias represent a group of genetic disorders caused by human hemoglobin beta (HBB) gene mutations. The radical curative approach is to correct the mutations causing the disease. CRISPR-CAS9 is a novel gene-editing technology that can be used auspiciously for the treatment of these disorders. The study aimed to investigate the utility of CRISPR-CAS9 for gene modification of hematopoietic stem cells in β-thalassemia with IVS-1-110 mutation. We successfully isolated CD34+ cells from peripheral blood of β-thalassemia patients with IVS-1-110 mutation. The cells were transfected with Cas9 endonuclease together with guide RNA to create double-strand breaks and knock out the mutation. The mutation-corrected CD34+ cells were subjected to erythroid differentiation by culturing in complete media containing erythropoietin. CRISPR/Cas-9 is an effective tool for gene therapy that will broaden the spectrum of therapy and potentially improve the outcomes of β-thalassemia.

中文翻译：

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CRISPR介导的β地中海贫血IVS-1-110突变对造血干细胞的基因修饰。

β-地中海贫血代表由人类血红蛋白β（HBB）基因突变引起的一组遗传疾病。根治性方法是纠正引起疾病的突变。CRISPR-CAS9是一种新颖的基因编辑技术，可以吉祥地用于治疗这些疾病。这项研究旨在研究CRISPR-CAS9在具有IVS-1-110突变的β地中海贫血中对造血干细胞进行基因修饰的实用性。我们成功地从IVS-1-110突变的β地中海贫血患者的外周血中分离了CD34 +细胞。用Cas9核酸内切酶和向导RNA转染细胞以产生双链断裂并敲除突变。通过在包含促红细胞生成素的完全培养基中培养，对突变校正的CD34 +细胞进行红系分化。