地中海贫血铁过载与HFE基因突变的研究进展

Research Progress of Iron Overload and HFE Gene Mutation in Thalassemia

地中海贫血是一种常见的常染色体隐性遗传病,是由某个或多个珠蛋白基因异常引起一种或一种以上珠蛋白肽链合成减少或缺乏的溶血性贫血。地中海贫血长期的慢性溶血、贫血状态导致人体出现铁过载情况,从而引起心脏、肝脏、内分泌腺体、骨骼等多个组织器官功能障碍。已有相关研究表明HFE基因突变与地中海贫血铁代谢情况相关,本文主要从HFE基因突变机制、HFE突变基因与地中海贫血铁过载的关系来阐述H63D、C282Y和S65C三种类型HFE基因突变在地中海贫血中的研究进展,为后续祛铁治疗提供新的诊疗思路。

Thalassemia is a common autosomal recessive genetic disease, and is a hemolytic anemia caused by the reduction or lack of synthesis of one or more globin peptide chains due to the abnormality of one or more globin genes. Long-term chronic hemolysis and anemia of thalassemia lead to iron overload in human body, which leads to dysfunction of many tissues and organs such as heart, liver, endocrine glands and bones. Relevant studies have shown that HFE gene mutation is related to iron metabolism in thalassemia. This article mainly expounds the research progress of three types of HFE gene mutations H63D, C282Y and S65C in thalassemia from between the mechanism of HFE gene mutation, the relationship HFE gene mutation and iron overload in thalassemia, so as to provide new diagnosis and treatment ideas for subsequent iron elimination treatment.