Thalassemias

地中海贫血

英文解释

Thalassemias is a diverse group of genetic disorders with a worldwide distribution affecting globin chain synthesis. The pathogenesis of thalassaemia lies in the unbalanced globin chain production, leading to ineffective erythropoiesis, increased haemolysis, and deranged iron homoeostasis. The clinical phenotype shows heterogeneity, ranging from close to normal without complications to severe requiring lifelong transfusion support. Conservative treatment with transfusion and iron chelation has transformed the natural history of thalassaemia major into a chronic disease with a prolonged life expectancy, albeit with co-morbidities and substantial disease burden.

中文解释

地中海贫血 (Thalassemias) 是一组遗传疾病，在世界范围内分布，影响珠蛋白链的合成。地中海贫血的发病机制在于珠蛋白链生成失衡，导致红细胞生成无效，溶血增多，铁稳态紊乱。临床表型表现出异质性，从接近正常无并发症到严重需要终身输血支持。输血和铁螯合的保守治疗已将严重地中海贫血的自然史转变为一种预期寿命延长的慢性疾病，尽管有合并疾病和沉重的疾病负担。

参考文献

[1]. Kattamis A, et al. Thalassaemia. Lancet. 2022Jun 18;399(10343):2310-2324.