Tchernia G, Mohandas N, Shohet S B
J Clin Invest. 1981 Aug;68(2):454-60. doi: 10.1172/jci110275.
Erythrocytes from three patients with severe hemolytic anemia, marked erythrocyte fragmentation, and elliptocytic poikilocytosis, were studied in terms of both their membrane protein composition and their mechanical characteristics. Erythrocytes from the patients' parents and one minimally affected and one normal sibling were also studied. Morphologic observations implied that the severely affected patients suffered from homozygous hereditary elliptocytosis because erythrocytes of both parents and the one minimally affected sibling showed moderate elliptocytosis on smear, whereas those of an unaffected sibling had normal morphology. The parallel findings of markedly reduced levels of band 4.1 in the erythrocyte membrane proteins of the patients and an intermediate reduction in the cells of the parents and the putative heterozygous sibling, suggest that the elliptocytic shape of the cells was related to the reduced levels of band 4.1. Additional studies showed marked abnormalities in cellular deformability and membrane fragility in the erythrocytes from the homozygous patients. Importantly, these changes were also closely proportional to the reduced levels of band 4.1, suggesting a central role for this protein in the maintenance of normal membrane stability and normal cell shape. It seems likely that this role for band 4.1 is intimately related to its known biochemical connection to the "membrane skeleton" through its linkage with spectrin and actin.
对三名患有严重溶血性贫血、明显红细胞破碎和椭圆形异形红细胞增多症的患者的红细胞，从其膜蛋白组成和机械特性两方面进行了研究。还对患者父母以及一名受影响最小的兄弟姐妹和一名正常兄弟姐妹的红细胞进行了研究。形态学观察表明，严重受影响的患者患有纯合子遗传性椭圆形红细胞增多症，因为父母和受影响最小的兄弟姐妹的红细胞在涂片上均显示中度椭圆形红细胞增多，而未受影响的兄弟姐妹的红细胞形态正常。患者红细胞膜蛋白中带4.1水平显著降低，而父母和假定的杂合子兄弟姐妹的细胞中带4.1水平中度降低，这些平行的发现表明细胞的椭圆形形态与带4.1水平降低有关。进一步研究表明，纯合子患者的红细胞在细胞变形性和膜脆性方面存在明显异常。重要的是，这些变化也与带4.1水平降低密切相关，表明该蛋白在维持正常膜稳定性和正常细胞形态方面起核心作用。带4.1的这一作用似乎与其通过与血影蛋白和肌动蛋白的连接而与“膜骨架”的已知生化联系密切相关。
