Department of Hematology, Wolfson Medical Center, Holon, Israel.
Blood. 2011 Sep 29;118(13):3479-88. doi: 10.1182/blood-2010-08-300335. Epub 2011 Aug 2.
The purpose of this article is to set forth our approach to diagnosing and managing the thalassemias, including β-thalassemia intermedia and β-thalassemia major. The article begins by briefly describing recent advances in our understanding of the pathophysiology of thalassemia. In the discussion on diagnosing the condition, we cover the development of improved diagnostic tools, including the use of very small fetal DNA samples to detect single point mutations with great reliability for prenatal diagnosis of homozygous thalassemia. In our description of treatment strategies, we focus on how we deal with clinical manifestations and long-term complications using the most effective current treatment methods for β-thalassemia. The discussion of disease management focuses on our use of transfusion therapy and the newly developed oral iron chelators, deferiprone and deferasirox. We also deal with splenectomy and how we manage endocrinopathies and cardiac complications. In addition, we describe our use of hematopoietic stem cell transplantation, which has produced cure rates as high as 97%, and the use of cord blood transplantation. Finally, we briefly touch on therapies that might be effective in the near future, including new fetal hemoglobin inducers and gene therapy.
本文旨在阐述我们在诊断和治疗地中海贫血症方面的方法，包括中间型β地中海贫血和重型β地中海贫血。文章首先简要描述了我们对地中海贫血症病理生理学的最新理解。在讨论诊断病情时，我们涵盖了改进诊断工具的发展，包括使用非常小的胎儿 DNA 样本来检测单点突变，以可靠地进行纯合子地中海贫血的产前诊断。在描述治疗策略时，我们重点介绍了如何使用目前最有效的治疗β地中海贫血的方法来应对临床表现和长期并发症。疾病管理的讨论侧重于我们如何使用输血疗法和新开发的口服铁螯合剂地拉罗司和去铁酮。我们还讨论了脾切除术以及如何处理内分泌和心脏并发症。此外，我们还描述了我们使用造血干细胞移植的情况，这种方法的治愈率高达 97%，并使用了脐带血移植。最后，我们简要介绍了在不久的将来可能有效的治疗方法，包括新型胎儿血红蛋白诱导剂和基因治疗。
