Nathan David G
Dana-Farber Cancer Institute, 44 Binney Street, Boston, MA 02115, USA.
Ann N Y Acad Sci. 2005;1054:1-10. doi: 10.1196/annals.1345.001.
This overview describes the history of transfusion therapy and consequent iron overload in thalassemia. It emphasizes the importance of measurement of hepatic iron and reviews the history of chelation therapy. It briefly describes the discoveries of the genetic basis of thalassemia and the application of that knowledge in prenatal diagnosis. The review goes on to emphasize pharmaceutical efforts to induce fetal hemoglobin synthesis in thalassemic red cells and ends with a discussion of oral iron chelators, stem cell transplant, and the status of gene therapy.
本综述描述了输血治疗的历史以及地中海贫血中随之而来的铁过载情况。它强调了测量肝脏铁含量的重要性，并回顾了螯合疗法的历史。它简要描述了地中海贫血遗传基础的发现以及该知识在产前诊断中的应用。该综述接着强调了诱导地中海贫血红细胞中胎儿血红蛋白合成的药物研发工作，并以对口服铁螯合剂、干细胞移植和基因治疗现状的讨论作为结尾。
