Service d'hématologie pédiatrique, centre de référence des Thalassémies, hôpital d'Enfants de la Timone, AP-HM, 13385 Marseille cedex 5, France.
C R Biol. 2013 Mar;336(3):164-72. doi: 10.1016/j.crvi.2012.09.010. Epub 2012 Oct 24.
In this report, we review the recent advances in evaluation and treatment of transfusional iron overload (IO). Results of the French thalassaemia registry are described. According to the disease, thalassaemia major or sickle cell anaemia, mechanisms and toxicity of iron overload, knowledge about IO long-term outcome and chelation treatment results, respective value of IO markers, differ. The recent tools evaluating organ specific IO and the diversification of iron chelator agents make possible to individualize chelation therapy in clinical practice. The severity of IO and the level of transfusional iron intake, the preferential localization of IO (heart/liver) as well as the tolerance and adherence profiles of the patient can now be taken into account. Introduction of cardiac magnetic resonance imaging for the quantification of myocardial iron and use of oral chelators have already been reported as decreasing the cardiac mortality rate related to IO in thalassaemia major patients. Long-term observation of patients under oral chelators will show if morbidity is also improving via a more continuous control of toxic iron and/or a better accessibility to cellular iron pools.
在本报告中，我们回顾了输血性铁过载（IO）的评估和治疗的最新进展。描述了法国地中海贫血登记处的结果。根据疾病（重型地中海贫血或镰状细胞贫血）、铁过载的机制和毒性、IO 长期结果和螯合治疗结果的知识、IO 标志物的各自价值，情况有所不同。最近评估器官特异性 IO 的工具和铁螯合剂的多样化使得在临床实践中可以对螯合治疗进行个体化。现在可以考虑 IO 的严重程度和输血铁摄入水平、IO 的优先定位（心脏/肝脏）以及患者的耐受性和依从性特征。已经有报道称，心脏磁共振成像用于心肌铁的定量和口服螯合剂的使用降低了重型地中海贫血患者 IO 相关的心脏死亡率。口服螯合剂治疗患者的长期观察将表明，通过更持续地控制毒性铁和/或更好地获得细胞铁池，是否也能改善发病率。
