Allali S, de Montalembert M, Brousse V, Chalumeau M, Karim Z
Department of General Pediatrics and Pediatric Infectious Diseases, Necker-Enfants malades hospital, AP-HP, Paris Descartes University, 149, rue de Sèvres, 75015 Paris, France; Laboratory of Excellence GR-ex, 75015 Paris, France; Pediatric Reference Center for Sickle cell Disease, 75015 Paris, France.
Department of General Pediatrics and Pediatric Infectious Diseases, Necker-Enfants malades hospital, AP-HP, Paris Descartes University, 149, rue de Sèvres, 75015 Paris, France; Laboratory of Excellence GR-ex, 75015 Paris, France; Pediatric Reference Center for Sickle cell Disease, 75015 Paris, France.
Transfus Clin Biol. 2017 Sep;24(3):223-226. doi: 10.1016/j.tracli.2017.06.008. Epub 2017 Jun 30.
Hemoglobinopathies, thalassemia and sickle cell disease are among the most frequent monogenic diseases in the world. Transfusion has improved dramatically their prognosis, but provokes iron overload, which induces multiple organ damages. Iron overload is related to accumulation of iron released from hemolysis and transfused red cell, but also, in thalassemic patients, secondary to ineffective erythropoiesis, which increases intestinal iron absorption via decreased hepcidin production. Transfusion-related cardiac iron overload remains a main cause of death in thalassemia in well-resourced countries, and is responsible for severe hepatic damages in sickle cell disease. Regular monitoring by Magnetic Resonance Imaging (MRI) using myocardial T2* (ms) and Liver Iron Content (LIC) (mg of iron/g dry weight) are now standards of care in chronically transfused patients. Serum ferritin level measurements and record of the total number of transfused erythrocyte concentrates are also helpful tools. Three iron chelators are currently available, deferoxamine, which must be injected subcutaneously or intravenously, and two oral chelators, deferiprone and deferasirox. We will review the main characteristics of these drugs and their indications.
血红蛋白病、地中海贫血和镰状细胞病是世界上最常见的单基因疾病。输血显著改善了它们的预后，但会引发铁过载，进而导致多器官损伤。铁过载与溶血和输注红细胞释放的铁积累有关，而且在地中海贫血患者中，还继发于无效造血，无效造血通过降低铁调素生成增加肠道铁吸收。在资源丰富的国家，输血相关的心脏铁过载仍然是地中海贫血的主要死亡原因，并且是镰状细胞病严重肝损伤的病因。目前，对于长期输血的患者，使用心肌T2*（毫秒）和肝脏铁含量（每克干重的铁毫克数）进行磁共振成像（MRI）定期监测是护理标准。血清铁蛋白水平测量以及输注红细胞浓缩物总数的记录也是有用的工具。目前有三种铁螯合剂，去铁胺，必须皮下或静脉注射，还有两种口服螯合剂，去铁酮和地拉罗司。我们将综述这些药物的主要特点及其适应证。
