Vassiliou G, Amrolia P, Roberts I A
Department of Haematology, Imperial College Faculty of Medicine, Hammersmith Hospital, London, UK.
Best Pract Res Clin Haematol. 2001 Dec;14(4):807-22. doi: 10.1053/beha.2001.0174.
Beta-thalassaemia major and sickle-cell disease (SCD) reduce lifespan and quality of life for >300000 children and young adults worldwide. The only cure for both disorders is allogeneic stem cell transplantation (SCT). The decision-making processes in recommending SCT for patients with thalassaemia and SCD are different. For thalassaemia, where transfusion-related iron overload is universal, SCT should be offered to all patients <17 years because long-term survival and thalassaemia-free survival are about 80 and 70% respectively. For thalassaemics unable to comply with medical treatment, SCT offers a significant survival advantage; however, for patients with optimal medical care, short-term survival after SCT is inferior to medical treatment, and SCT instead offers a life free from transfusions and iron chelation. The clinical heterogeneity of SCD means that SCT is recommended only for selected patients with severe disease, particularly sickle-related neurological problems, for whom long-term survival and SCD-free survival after SCT approach 92 and 86% respectively. We here review the evidence available to help physicians evaluate the role of SCT for individual patients with thalassaemia major or SCD.
重型β地中海贫血和镰状细胞病（SCD）缩短了全球30多万儿童和年轻人的寿命并降低了他们的生活质量。这两种疾病的唯一治愈方法是异基因干细胞移植（SCT）。为地中海贫血和SCD患者推荐SCT的决策过程有所不同。对于普遍存在输血相关铁过载的地中海贫血，应向所有17岁以下患者提供SCT，因为长期生存率和无地中海贫血生存率分别约为80%和70%。对于无法坚持医疗治疗的地中海贫血患者，SCT具有显著的生存优势；然而，对于接受最佳医疗护理的患者，SCT后的短期生存率低于医疗治疗，SCT反而能提供无输血和无铁螯合的生活。SCD的临床异质性意味着仅对选定的重症患者推荐SCT，特别是患有镰状细胞相关神经问题的患者，他们SCT后的长期生存率和无SCD生存率分别接近92%和86%。我们在此回顾现有证据，以帮助医生评估SCT对个别重型地中海贫血或SCD患者的作用。
