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地中海贫血和镰状细胞病患者死亡率模式及治疗策略的比较分析:一项为期12年的研究。

Comparative analysis of mortality patterns and treatment strategies in thalassaemia and sickle cell disease patients: A 12-year study.

作者信息

Delicou Sophia, Manganas Konstantinos, Diamantidis Michael D, Venou Theodora Maria, Delaporta Polyxeni, Pantelidou Despoina, Spachiou Eirini, Tsagia Sofia, Pappi Vasiliki, Petropoulou Foteini, Kapsali Eleni, Evliati Loukia, Papaioannou Konstantina, Katsatou Marianna, Klironomos Evangelos, Vasiliadi Artemis, Gkoutzouvelidis Angelos, Giasari Panagiota, Zisis Christos, Lafiatis Ioannis, Goula Anastasia, Xydaki Aikaterini, Papadopoulou Despina, Chatzoulis Christos, Lafioniatis Stylianos, Vini Dimitra, Serpanou Anastasia, Kalkana Chrysoula, Kyriakaki Stavroula, Drandaki Maria, Kouraklis Alexandra, Kattamis Antonis, Vlachaki Efthymia

机构信息

Hippokrateio General Hospital, Thalassaemia and Sickle Cell Disease Unit, Expertise Center of Haemoglobinopathies and Their Complications, Athens, Greece.

Thalassemia and Sickle Cell Disease Unit, Department of Hematology, General Hospital of Larissa, Larissa, Greece.

出版信息

Br J Haematol. 2025 May;206(5):1466-1478. doi: 10.1111/bjh.20043. Epub 2025 Mar 16.

Abstract

This study examined mortality rates among 2475 patients with thalassaemia and sickle cell disease (SCD) per year over 12 years in Greece, recording 335 deaths (27.92/year), with an overall mortality rate of 1.13% per year. The primary aim was to identify causes of death, comorbidities, treatment efficacy and iron overload prevalence. Of the deaths, 239 were attributed to thalassaemia and 96 to SCD. For thalassaemia patients, cardiac failure, hepatocellular carcinoma and sepsis were the leading causes of death, with no neoplasms observed in β+/β+ genotypes. In SCD, sepsis, liver failure and stroke were the predominant causes, with sepsis-related deaths higher in frequently transfused patients. The median age of death was significantly lower in thalassaemia (50 years) compared to SCD (58.49 years, p < 0.001). Differences in comorbidities and treatment effectiveness highlight the need for improved management strategies. Addressing iron overload, optimizing chelation therapy and expanding hydroxyurea use in SCD patients could enhance survival and quality of life. Strengthening treatment protocols and monitoring may reduce mortality, emphasizing the importance of targeted interventions in haemoglobinopathies.

摘要

本研究对希腊2475例地中海贫血和镰状细胞病(SCD)患者进行了为期12年的年度死亡率调查,记录了335例死亡病例(每年27.92例),年总死亡率为1.13%。主要目的是确定死亡原因、合并症、治疗效果和铁过载患病率。在这些死亡病例中,239例归因于地中海贫血,96例归因于SCD。对于地中海贫血患者,心力衰竭、肝细胞癌和败血症是主要死亡原因,在β+/β+基因型中未观察到肿瘤。在SCD中,败血症、肝衰竭和中风是主要原因,频繁输血患者中与败血症相关的死亡更高。地中海贫血患者的中位死亡年龄(50岁)显著低于SCD患者(58.49岁,p<0.001)。合并症和治疗效果的差异凸显了改进管理策略的必要性。解决铁过载问题、优化螯合疗法以及扩大羟基脲在SCD患者中的使用可能会提高生存率和生活质量。加强治疗方案和监测可能会降低死亡率,强调了针对血红蛋白病进行靶向干预的重要性。

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