【摘要】 β地中海贫血是β珠蛋白基因突变引起的慢性溶血性贫血,属于遗传性血红蛋白病。此疾病在我国好发于广东、广西、福建等地区,其治疗主要包括输血、铁螯合剂、造血干细胞移植、脾脏切除、诱导Hb F生成以及基因治疗等。该疾病的死亡率仍然较高。近十几年来,针对β珠蛋白合成不足进行的研究主要集中在正常β珠蛋白基因的导入和内源性γ珠蛋白等基因的再次诱导激活两个方面。随着小分子RNA(microRNA,miRNA)的研究成为热点,发现在β地中海贫血中存在多种miRNA的失调表达,部分miRNA参与诱导γ珠蛋白的合成,对β地中海贫血起到治疗作用。因此,研究miRNA与β地中海贫血的关系,可望为靶向治疗β地中海贫血提供理论依据。本文就地中海贫血的γ珠蛋白诱导治疗及其与miRNA的关系作一综述。更多还原

【Abstract】 β-thalassemia is a chronic hemolytic anemia characterized by the reduction or absence of synthesis of β—globin chains because of the β-globin gene mutations.β-thalassemia belongs to the inherited hemoglobin disease,and occurs in some provinces of China,such as in Guangdong,Guangxi,Fujian,its prevalence is about 2%.The treatment of this disease include transfusion,iron chelating agent,hematopoietic stem cell transplantation,splenectomy,induced expression of Fetal Hemoglobin(HbF) and gene therapies.However,the mortality rate of this disease is still higher,thus some new treatments are urgently needed.In recent years,the study was mainly concentrated in 2 aspects:the normal β-globin gene transfer and endogenous γ-globin re-activation.Some studies showed that the expression of miRNAs was dysregulated in β-thalassemia.Some miRNAs could regulate γ-globin at posttranscriptional level,thus,the clarification of relationship between miRNAs and β-thalassemia is expected to provide experimental bases to β-thalassemia therapy.In this review,the induced therapy of γ-globin for β-thalassemia and its relationship with the miRNA are summarized.更多还原