Studies on molecular abnormalities of spectrin and cytoskeleton in red cell membrane disorders

从细胞骨架异常的角度对315例红细胞膜异常进行了研究，重点探讨了以下问题：(1)红细胞膜蛋白带4.2缺失；带4.2缺乏的特征是：(1)卵圆口细胞增生伴严重的非代偿性溶血，(2)SDS-PAGE上完全没有带4.2，其他蛋白带没有缺陷，(3)钠内流增加(病例1 2.15 mmol /1 RBC/小时，病例2 1.78 mmol /1 RBC/小时（N:1.29 0.14），(4)通过细胞计数法检测完整红细胞的红细胞变形能力中度降低，(5)免疫印迹研究显示该蛋白中存在异常带。（II） 33例遗传性口细胞增多症（HSt）患者的血液学和膜特征：回顾我院33例HSt患者的血液学和膜特征。疾病的类型根据钠内流分为：与正常对照（1.29 0.14）相比，钠内流明显增加的HST(1型：0.5 mmol /1 RBC/hr)，钠内流中度增加的HST（2型：1.5-5）和钠内流不增加的HST（3型：1-1.5）。3型患者均有中度贫血和溶血性黄疸。在1型（n=7）中，Na内流显著增加是典型特征，而在2型（n=15）中，Na外排适度增强，与3型（n=10）中正常的膜运输相反。（三）截至1988年底，共315例红细胞膜疾病患者，其中遗传性球形细胞增多症102例，遗传性椭圆细胞增多症49例，遗传性口状细胞增多症33例，膜脂异常28例等。在HE中，49例常见HE中检出1例α -谱蛋白分子缺陷，如HE[Sp α ^<I/74>]。

Red cell membrane disorders (315 cases) were studied in the standpoint of cytoskeletal abnormalities, especially on the following topics: (I) Deficiency of red cell membrane protein band 4.2: Band 4.2 deficiency was characterized by (1) ovalostomatocytosis with severe uncompensated hemolysis, (2) complete absence of band 4.2 on SDS-PAGE with no defect of other protein bands, (3) increased Na influx (2.15 mmoles/1 RBC/hour in case 1 and 1.78 in case2(N:1.29 0.14), (4) moderately decreased red cell deformability in intact red cells examined by ektacytometry, (5) immunoblot studies revealed the presence of abnormal bands in this protein. (II) Hematological and membrane characteristics in 33 patients with hereditary stomatocytosis (HSt): Hematological and membrane characteristics were reviewed in 33 patients of hst studied at our institution. the type of the disease was categorized as based on na influx: HST with markedly increased Na influx (Type 1: >5 mmoles/1 RBC/hr), HSt with moderately increased Na influx (Type 2: 1.5-5), and HSt with not increased Na influx (Type 3: 1-1.5), compared to normal control (1.29 0.14). The extent of anemia and hemolytic jaundice was moderate in these 3 types. In Type 1 (n=7), n markedly increased Na influx was characteristic, and in Type 2 (n=15) Na efflux was moderately enhanced, contrary to normal membrane transport in type 3 (n=10). (III) Red cell membrane disoredrs studied by the end of 1988 were 315 cases as total, including 102 cases of hereditary spherocytosis, 49 cases of hereditary elliptocytosis (HE), 33 cases of hereditary stomatocytosis, 28 cases of membrane lipid abnormalties and others. In HE, a case with a molecuar defect of alpha-spectrin, such as HE[Sp alpha^<I/74>], was detected among 49 cases of a common type of HE.