Smith B D, Segel G B
Department of Medicine, University of Rochester School of Medicine, NY 14620, USA.
Blood. 1997 May 1;89(9):3451-6.
Hereditary stomatocytosis is a red cell membrane protein disorder, which results in hemolytic anemia. Some patients with hereditary stomatocytosis experience dyspnea, chest pain, and abdominal pain, particularly after splenectomy. These symptoms may represent vaso-occlusion secondary to adherence of an abnormal erythrocyte membrane to vascular endothelium. We studied three members of a family with varying clinical expression of hereditary stomatocytosis. Adherence of red cells to endothelium was quantified by measuring the shear force required to separate individual cells from endothelial monolayers using a micropipette technique. Two patients with symptoms of in situ thromboses had a higher percentage of adherent cells compared with their asymptomatic sibling and normal controls. Correlation between this in vitro phenomenon and the clinical course suggests that flow abnormalities in the microcirculation attributable to erythrocyte endothelial adherence may play an important pathogenetic role in the illness. When the proportion of adherent red cells was reduced by a chronic transfusion program in one patient and pentoxifyllin therapy in another, the vaso-occlusive complications were eliminated.
遗传性口形红细胞增多症是一种红细胞膜蛋白紊乱疾病，可导致溶血性贫血。一些遗传性口形红细胞增多症患者会出现呼吸困难、胸痛和腹痛，尤其是在脾切除术后。这些症状可能代表异常红细胞膜与血管内皮细胞黏附继发的血管阻塞。我们研究了一个具有遗传性口形红细胞增多症不同临床表现的家族中的三名成员。通过使用微量移液器技术测量将单个细胞与内皮单层分离所需的剪切力，对红细胞与内皮细胞的黏附进行定量。与无症状的同胞和正常对照相比，两名有原位血栓形成症状的患者的黏附细胞百分比更高。这种体外现象与临床病程之间的相关性表明，红细胞与内皮细胞黏附导致的微循环血流异常可能在该疾病中起重要的致病作用。当一名患者通过长期输血方案降低黏附红细胞的比例，另一名患者通过己酮可可碱治疗降低黏附红细胞的比例时，血管阻塞性并发症得以消除。
