Okpala Iheanyi
Haematology Department, St. Thomas Hospital, Lambeth Palace Road, London SE1 7EH, UK.
Blood Rev. 2004 Mar;18(1):65-73. doi: 10.1016/s0268-960x(03)00037-7.
Sickle cell disease (SCD) is characterized by a point mutation that replaces adenine with thymidine in the sixth codon of the beta-globin gene, a unique morphological abnormality of red blood cells, vaso-occlusion with ischaemic tissue injury, and susceptibility to infections. Vascular lumen obstruction in SCD results from interaction of erythrocytes, leukocytes, platelets, plasma proteins, and the vessel wall. The disease phenotype is a product of various genes and environmental factors acting in concert with the protein lesion underlying the red cell anomaly. The severity of SCD increases with leukocyte count. The biological basis and therapeutic implications of this relationship are discussed. Leukocytes contribute to SCD by adhering to blood vessel walls and obstructing the lumen, aggregating with other blood cells with more effective blockage of the lumen, stimulating the vascular endothelium to increase its expression of ligands for adhesion molecules on blood cells, and causing tissue damage and inflammatory reaction which predispose to vaso-occlusion. Patients with impaired ability of leukocytes to kill microbes are more prone to infections; which precipitate sickle cell crisis. Reduction of leukocyte count ameliorates SCD. Similarly, targeted blockade or reduced synthesis of specific leukocyte adhesion molecules and their ligands might confer clinical benefit in SCD.
镰状细胞病(SCD)的特征在于β-珠蛋白基因第六密码子中的点突变,该突变使腺嘌呤被胸腺嘧啶取代,存在独特的红细胞形态异常、伴有缺血性组织损伤的血管阻塞以及易感染性。SCD中的血管腔阻塞是由红细胞、白细胞、血小板、血浆蛋白和血管壁之间的相互作用导致的。该疾病表型是各种基因和环境因素与红细胞异常背后的蛋白质损伤共同作用的产物。SCD的严重程度随白细胞计数增加而加重。本文讨论了这种关系的生物学基础和治疗意义。白细胞通过粘附于血管壁并阻塞管腔、与其他血细胞聚集从而更有效地阻塞管腔、刺激血管内皮增加其对血细胞上粘附分子配体的表达以及引起组织损伤和炎症反应(这易导致血管阻塞)来促使SCD发生。白细胞杀灭微生物能力受损的患者更容易发生感染,这会引发镰状细胞危象。降低白细胞计数可改善SCD。同样,靶向阻断或减少特定白细胞粘附分子及其配体的合成可能会给SCD患者带来临床益处。