Pekrun A, Eber S W, Kuhlmey A, Schröter W
Universitäts-Kinderklinik, Göttingen, Germany.
Ann Hematol. 1993 Aug;67(2):89-93. doi: 10.1007/BF01788132.
Hereditary spherocytosis is characterized by a reduced spectrin content of the erythrocytes. However, the underlying primary defect remains unclear in the majority of cases. Genetic studies have revealed a linkage to the gene for ankyrin in some families. By means of ELISA we measured the ankyrin, spectrin, and band-3 contents in erythrocytes of 45 patients with typical spherocytosis. They were classified as having mild or moderate spherocytosis, according to clinical severity. Sixteen patients with mild spherocytosis showed slight reductions of ankyrin and spectrin contents. In contrast, 29 patients with moderate spherocytosis exhibited a clear reduction of both ankyrin and spectrin to about 60% of normal. Band 3 and lipid phosphorus, as measures for membrane surface area, were only slightly reduced to 85%. Our results, together with the molecular genetic data indicating the linkage between spherocytosis and the gene for ankyrin, suggest an ankyrin defect or deficiency as the primary lesion in most cases of spherocytosis.
遗传性球形红细胞增多症的特征是红细胞中血影蛋白含量降低。然而，在大多数病例中，潜在的原发性缺陷仍不清楚。基因研究已揭示在一些家族中与锚蛋白基因存在联系。我们通过酶联免疫吸附测定法（ELISA）测量了45例典型球形红细胞增多症患者红细胞中的锚蛋白、血影蛋白和带3蛋白含量。根据临床严重程度，他们被分类为患有轻度或中度球形红细胞增多症。16例轻度球形红细胞增多症患者的锚蛋白和血影蛋白含量略有降低。相比之下，29例中度球形红细胞增多症患者的锚蛋白和血影蛋白均明显降低至正常水平的约60%。作为膜表面积指标的带3蛋白和脂质磷仅略有降低至85%。我们的结果，连同表明球形红细胞增多症与锚蛋白基因之间存在联系的分子遗传学数据，提示在大多数球形红细胞增多症病例中，锚蛋白缺陷或缺乏是原发性病变。
