Streichman S, Herz E, Tatarsky I
Department of Hematology, Rambam Medical Center, Haifa, Israel.
Am J Hematol. 1990 Feb;33(2):123-7. doi: 10.1002/ajh.2830330209.
The clinical and hematological parameters of a patient described here, who inherited the genes of both hereditary elliptocytosis (HE) and beta-thalassemia, seem to reflect a mutual enhancement of the two diseases. The coexistence of the two pathologies is probably also responsible for the observed changes in spectrin: the appearance of an extra spectrin band between tetramers and dimers on denaturing gel electrophoresis and the metabolic-dependent reduction in spectrin amount. It is assumed that the instability of the skeletal network that results from the HE pathology caused increased exposure of the spectrin molecule to oxidative damage that usually occurs in thalassemic red cells. The products of such oxidation may have led to abnormal spectrin associations which finally resulted in the above changes.
本文描述的一位同时继承了遗传性椭圆形红细胞增多症（HE）和β地中海贫血基因的患者的临床和血液学参数，似乎反映了这两种疾病的相互增强作用。这两种病理状态的共存可能也是观察到的血影蛋白变化的原因：变性凝胶电泳上四聚体和二聚体之间出现额外的血影蛋白条带，以及血影蛋白量的代谢依赖性减少。据推测，HE病理导致的骨骼网络不稳定，使血影蛋白分子更多地暴露于地中海贫血红细胞中通常发生的氧化损伤。这种氧化产物可能导致了血影蛋白的异常结合，最终导致了上述变化。
