Russo Vincenzo, Melillo Enrico, Papa Andrea A, Rago Anna, Chamberland Celeste, Nigro Gerardo
Chair of Cardiology, Department of Translational Medical Sciences, University of Campania "Luigi Vanvitelli", Monaldi Hospital, Naples, Italy.
Department of History and Philosophy, Roosevelt University, Chicago, Illinois, USA.
Cardiol Res Pract. 2019 Nov 30;2019:9319832. doi: 10.1155/2019/9319832. eCollection 2019.
Beta-thalassemias are a group of inherited, autosomal recessive diseases, characterized by reduced or absent synthesis of beta-globin chains of the hemoglobin tetramer, resulting in variable phenotypes, ranging from clinically asymptomatic individuals to severe anemia. Three main forms have been described: heterozygotes, homozygotes +, and homozygotes °. Beta-thalassemia major (-TM), the most serious form, is characterized by an absent synthesis of globin chains that are essential for hemoglobin formation, causing chronic hemolytic anemia. Cardiac complications represent a leading cause of mortality in -TM patients, although an important and progressive increase of life expectancy has been demonstrated after the introduction of chelating therapies. Iron overload is the primary factor of cardiac damage resulting in thalassemic cardiomyopathy, in which diastolic dysfunction usually happens before systolic impairment and overt heart failure (HF). Although iron-induced cardiomyopathy is slowly progressive and it usually takes several decades for clinical and laboratory features of cardiac dysfunction to manifest, arrhythmias or sudden death may be present without signs of cardiac disease and only if myocardial siderosis is present. Careful analysis of electrocardiograms and other diagnostic tools may help in early identification of high-risk -TM patients for arrhythmias and sudden cardiac death.
β地中海贫血是一组遗传性常染色体隐性疾病，其特征是血红蛋白四聚体的β珠蛋白链合成减少或缺失，导致从临床无症状个体到严重贫血的多种表型。已描述了三种主要形式：杂合子、纯合子+和纯合子°。重型β地中海贫血（-TM）是最严重的形式，其特征是缺乏对血红蛋白形成至关重要的珠蛋白链合成，导致慢性溶血性贫血。心脏并发症是-TM患者死亡的主要原因，尽管在引入螯合疗法后已证明患者的预期寿命有了重要且逐步的提高。铁过载是导致地中海贫血性心肌病的心脏损伤的主要因素，其中舒张功能障碍通常在收缩功能损害和明显心力衰竭（HF）之前发生。尽管铁诱导的心肌病进展缓慢，通常需要几十年心脏功能障碍的临床和实验室特征才会显现，但心律失常或猝死可能在没有心脏病迹象的情况下出现，且只有在存在心肌铁沉积时才会发生。仔细分析心电图和其他诊断工具可能有助于早期识别-TM患者发生心律失常和心源性猝死的高风险情况。
