中文摘要：

地中海贫血是一种常染色体遗传病,目前其发病机制主要集中在基因缺陷和突变方面,且这方面的研究已经趋于完善。随着表观遗传学的发展,越来越多的疾病被证实与表观遗传学有密切的关系。地中海贫血的表观遗传学的研究目前在世界范围内正处在起步阶段,这方面的研究有助于发现新的地中海贫血的诊断和治疗方法。

英文摘要：

Thalassemia was a kind of autosomal inherited disease.In the present study,the mechanisms for Thalassemia are focus on genetic defection and mutation.As the development of epigenetics,it has been proved that the occurrence of epigenetic alterations was associated with the development and progression of many diseases.The survey of the mechanism for thalassemia are just at primitive stage all over the world.Following more survey,new diagnostic markers and therapeutic targets will be found.