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例红细胞膜疾病进行了研究，特别是对下列问题进行了研究：(1)红细胞膜蛋白条带4.2的缺乏：(1)卵圆口红细胞增多伴严重的不完全性溶血；(2)在SDS-PAGE上完全没有条带4.2，没有其他蛋白条带的缺陷；(3)钠内流增加(例1为2.15mmoles/l RBC/小时，例2为1.78(N：1.29~0.14))，(4)红细胞的变形能力经免疫荧光分光光度法检测，正常红细胞中的红细胞变形性中度降低。(5)免疫印迹显示该蛋白中存在异常条带。(Ii)遗传性口腔细胞增多症(HST)患者的血液学和细胞膜特征：对33例遗传性口腔细胞增生症患者的血液学和细胞膜特征进行了复习。与正常对照组(1.29~0.14)相比，HST伴显著增加的Na内流(类型1：5mmoles/1 RBC/hr)，HST伴中度增加的Na内流(类型2：1.5-5)和不增加Na内流的HST(类型3：1-1.5)。3种类型的贫血和溶血性黄疸程度均为中度。1型(n=7)以钠内流显著增加为特征，2型(n=15)钠外流轻度增加，与3型(n=10)正常膜转运相反。(3)1988年底共研究红细胞膜病315例，其中遗传性球形红细胞增多症102例，遗传性椭圆形红细胞增多症49例，遗传性口型增多症33例，膜脂异常28例等。在HE中，在49例常见类型的HE中发现了1例α-血影蛋白分子缺陷，如HE[Spα；lt；I/74&gt；]。

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.