van Beers E J, Peters M, Biemond B J
Afd. Hematologie, Academisch Medisch Centrum/Universiteit van Amsterdam, Postbus 22.660, 1100 DD Amsterdam.
Ned Tijdschr Geneeskd. 2005 May 21;149(21):1144-9.
Sickle-cell disease is a hereditary haemoglobinopathy caused by a mutation in the beta-globin gene. The disease is characterised by recurrent vaso-occlusive crises resulting in severe organ damage and a sharply reduced life expectancy. The formation of haemoglobin-S polymers in hypoxic conditions plays a pivotal role in sickle-cell disease and produces the characteristic phenotype of sickle-shaped erythrocytes that promote vasoocclusion. Endothelial cell activation, enhanced erythrocyte and leukocyte adhesion, vasoconstriction and coagulation activation play an important role in vaso-occlusive crises. Treatment of pain and hydration remain the main interventions in the management ofvaso-occlusive crises. Hydroxyurea has been shown to prevent vaso-occlusive crises by increasing the amount of foetal haemoglobin. Allogeneic stem-cell transplantation is the only curative therapy. However, transplantation-related mortality, graft-versus-host disease and the limited availability of HLA-identical donors restrict this therapeutic option.
镰状细胞病是一种由β-珠蛋白基因突变引起的遗传性血红蛋白病。该疾病的特征是反复发生血管闭塞性危机，导致严重的器官损伤和预期寿命急剧缩短。在低氧条件下血红蛋白-S聚合物的形成在镰状细胞病中起关键作用，并产生促进血管闭塞的镰状红细胞特征性表型。内皮细胞活化、红细胞和白细胞粘附增强、血管收缩和凝血活化在血管闭塞性危机中起重要作用。疼痛治疗和补液仍然是血管闭塞性危机管理的主要干预措施。羟基脲已被证明可通过增加胎儿血红蛋白的量来预防血管闭塞性危机。异基因干细胞移植是唯一的治愈性疗法。然而，移植相关死亡率、移植物抗宿主病以及HLA匹配供体的有限可用性限制了这种治疗选择。
