Department of Paediatric Haematology, King's College Hospital, and School of Cancer and Pharmaceutical Science, King's College, London, UK.
Centre de Référence MCGRE, Service d'Hématologie-Immunologie, AP-HP, Hôpital Robert Debré, F-75019 Paris, France; Université Paris Cité and Université des Antilles, Inserm, BIGR, F-75015 Paris, France; Laboratoire d'Excellence GR-Ex, France.
Blood Rev. 2022 Nov;56:100983. doi: 10.1016/j.blre.2022.100983. Epub 2022 Jun 9.
Sickle cell disease is a very variable condition, with outcomes ranging from death in childhood to living relatively symptom free into the 8 decade. Much of this variability is unexplained. The co-inheritance of α thalassaemia and factors determining HbF levels significantly modify the phenotype, but few other significant genetic variants have been identified, despite extensive studies. Environmental factors are undoubtedly important, with socio-economics and access to basic medical care explaining the huge differences in outcomes between many low- and high-income countries. Exposure to cold and windy weather seems to precipitate acute complications in many people, although these effects are unpredictable and vary with geography. Many studies have tried to identify prognostic factors which can be used to predict outcomes, particularly when applied in infancy. Overall, low haemoglobin, low haemoglobin F percentage and high reticulocytes in childhood are associated with worse outcomes, although again these effects are fairly weak and inconsistent.
镰状细胞病是一种非常多变的疾病，其结局从儿童期死亡到 80 多岁无症状生存不等。造成这种差异的原因很多，但仍无法解释。α 地中海贫血的共遗传和决定 HbF 水平的因素显著改变了表型，但尽管进行了广泛的研究，仍很少发现其他重要的遗传变异。环境因素无疑很重要，社会经济地位和基本医疗保健的获得解释了许多高收入和低收入国家之间结局的巨大差异。许多人在暴露于寒冷和多风的天气时似乎会使急性并发症恶化，尽管这些影响是不可预测的，且因地理位置而异。许多研究试图确定可用于预测结局的预后因素，特别是在婴儿期应用时。总的来说，儿童时期的低血红蛋白、低血红蛋白 F 百分比和高网织红细胞与更差的结局相关，但这些影响相当微弱且不一致。
