Molecular Basis and Genetic Modifiers of Thalassemia
Molecular Basis and Genetic Modifiers of Thalassemia
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DOI：
10.1016/j.hoc.2022.12.001
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发表时间：
2023-03-10
影响因子：
2.4
通讯作者：
Bauer, Daniel E.
中科院分区：
文献类型：
--
作者：
Tesio, Nicolo;Bauer, Daniel E.
地中海贫血综合征是最常见的单基因疾病之一，在世界范围内造成巨大的健康负担。在这里，作者描述了珠蛋白基因，血红蛋白的发育生产，分子损伤引起地中海贫血综合征，基因型-表型相关性，遗传修饰，分子诊断和预防，细胞和基因治疗方法。随着诊断和基因改造技术的改进，地中海贫血的临床治疗方法
Thalassemia syndromes are among the commonest monogenic disorders and represent a substantial health burden worldwide. Here the authors have described globin genes, developmental production of hemoglobin, molecular lesions causing thalassemia syndromes, genotype-phenotype correlations, genetic modifiers, molecular diagnosis and prevention, and cell and gene therapy approaches. With the advent of improved diagnostic and genetic modification technologies, the clinical approach to thalassemias is