Thalassaemia
Thalassaemia
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DOI：
10.1016/s0140-6736(11)60283-3
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发表时间：
2012-01-28
期刊：
影响因子：
168.9
通讯作者：
Stamatoyannopoulos, George
中科院分区：
文献类型：
--
作者：
Higgs, Douglas R.;Engel, James Douglas;Stamatoyannopoulos, George
地中海贫血是世界上最常见的遗传性疾病之一，每年至少有6万名严重受影响的人出生。来自热带和亚热带地区的人面临的风险最大。血红蛋白合成障碍（地中海贫血）和结构障碍（如镰状细胞病）是最早被发现的分子疾病之一，在过去的40年里已经进行了详细的研究和表征。尽管如此，地中海贫血的治疗仍然在很大程度上依赖于输血和铁螯合的支持性护理。自1978年以来，该专业的科学家和临床医生定期举行会议，共同努力改善地中海贫血的管理，目的是增加未受影响的胎儿基因的表达，以改善成人β-珠蛋白合成的不足。在这次研讨会中，我们讨论了珠蛋白基因正常和异常表达的分子和细胞基础的理解的重要进展。我们将总结新的方法来开发量身定制的药物制剂，以改变珠蛋白基因的调节，地中海贫血基因治疗的第一次试验，以及细胞治疗的未来前景。
Thalassaemia is one of the most common genetic diseases worldwide, with at least 60 000 severely affected individuals born every year. Individuals originating from tropical and subtropical regions are most at risk. Disorders of haemoglobin synthesis (thalassaemia) and structure (eg, sickle-cell disease) were among the first molecular diseases to be identified, and have been investigated and characterised in detail over the past 40 years. Nevertheless, treatment of thalassaemia is still largely dependent on supportive care with blood transfusion and iron chelation. Since 1978, scientists and clinicians in this specialty have met regularly in an international effort to improve the management of thalassaemia, with the aim of increasing the expression of unaffected fetal genes to improve the deficiency in adult beta-globin synthesis. In this Seminar we discuss important advances in the understanding of the molecular and cellular basis of normal and abnormal expression of globin genes. We will summarise new approaches to the development of tailored pharmacological agents to alter regulation of globin genes, the first trial of gene therapy for thalassaemia, and future prospects of cell therapy.