Peng Ching-Tien, Chang Jeng-Sheng, Wu Kang-Hsi, Tsai Chang-Hai, Lin Huan-Sheng
Department of Laboratory Medicine, China Medical University Hospital, Taichung, Taiwan.
Front Biosci. 2008 May 1;13:5975-87. doi: 10.2741/3130.
Thalassemia is anemia of variable severity, arising from mutations of genes encoding the hemoglobin alpha and beta chains. Severe thalassemia is associated with iron overload, tissue lesions, and high risk for cardiovascular complications, and iron-mediated cardiomyopathy is the main cause of death in this condition. Thalassemia major (TM) patients exhibit cardiovascular abnormalities consistent with chronic anemia; these include enlargement of the ventricular chambers, increased cardiac output, and reduced total vascular resistance. Cardiac iron overload in TM patients due to long-term transfusion can cause further chamber dilation, decreased contractility, and arrhythmia. Paradoxically, many such patients remain asymptomatic until decompensation occurs. For decades, magnetic resonance imaging and echocardiography have been performed to detect advanced cardiac dysfunction; however, reliable evaluation tools for the early detection of cardiac abnormalities are currently in demand. This article reviews the mechanisms underlying the development of heart disease in thalassemia and strategies for therapeutic intervention in TM patients with congestive heart failure.
地中海贫血是一种严重程度各异的贫血症，由编码血红蛋白α链和β链的基因突变引起。重度地中海贫血与铁过载、组织损伤以及心血管并发症的高风险相关，铁介导的心肌病是导致这种情况死亡的主要原因。重型地中海贫血（TM）患者表现出与慢性贫血相符的心血管异常；这些异常包括心室腔扩大、心输出量增加和总血管阻力降低。由于长期输血导致的TM患者心脏铁过载可引起进一步的心室扩张、收缩力下降和心律失常。矛盾的是，许多此类患者在失代偿发生之前一直没有症状。几十年来，一直通过磁共振成像和超声心动图来检测晚期心脏功能障碍；然而，目前需要可靠的评估工具来早期检测心脏异常。本文综述了地中海贫血中心脏病发生的潜在机制以及对充血性心力衰竭的TM患者进行治疗干预的策略。
