Davies S C
Department of Haematology, Central Middlesex Hospital, London, UK.
Blood Rev. 1993 Mar;7(1):4-9. doi: 10.1016/0268-960x(93)90018-y.
Sickle cell disease is the family of clinically significant haemoglobin disorders which have in common the inheritance of the sickle beta haemoglobin chain gene. The homozygous SS condition, also known as sickle cell anaemia, can present a varied clinical picture from asymptomatic through to frequent painful vaso-occlusive crises and even death as a result of complications of the disease. S beta zero thalassaemia and the rate haemoglobin SD disease present a similar picture to SS, while S beta plus thalassaemia and haemoglobin SC disease generally have milder clinical features than SS and present somewhat later in life. The present debate about bone marrow transplant (BMT) for sickle cell disease, among both physicians and community, relates to SS patients, definition and markers of disease severity, the effect of BMT on sickle related organ damage, the efficacy of BMT for SS, and its complications, both early and long-term.
镰状细胞病是一类具有临床意义的血红蛋白疾病，它们共同的特点是继承了镰状β血红蛋白链基因。纯合子SS状态，也称为镰状细胞贫血，其临床表现多样，从无症状到频繁发生疼痛性血管阻塞危象，甚至因疾病并发症而死亡。Sβ0地中海贫血和血红蛋白SD病的表现与SS相似，而Sβ+地中海贫血和血红蛋白SC病的临床特征通常比SS轻，且发病时间稍晚。目前，医生和社会各界关于镰状细胞病骨髓移植（BMT）的争论涉及SS患者、疾病严重程度的定义和标志物、BMT对镰状细胞相关器官损伤的影响、BMT对SS的疗效及其早期和长期并发症。
