Lee Y K, Cho H I, Park S S, Lee Y J, Ra E, Chang Y H, Hur M, Shin H Y, Ahn H S
Department of Clinical Pathology, Seoul National University College of Medicine, Korea.
J Korean Med Sci. 2000 Jun;15(3):284-8. doi: 10.3346/jkms.2000.15.3.284.
Hereditary spherocytosis (HS) is a common inherited erythrocyte membrane disorder characterized by chronic hemolytic anemia. Clinical manifestations and biochemical abnormalities of HS are heterogeneous. In this study, we investigated erythrocyte membrane protein defects in 27 Korean HS cases. Utilizing both the Fairbanks system and the Laemmli system, sodium dodecyl sulfate polyacrylamide gel electrophoresis of erythrocyte membrane proteins was performed. Proteins were stained with Coomassie brilliant blue and gels were scanned using a densitometer. We detected spectrin deficiency in 7.4% of cases (2/27), ankyrin deficiency in 29.6% (8/27), combined spectrin and ankyrin deficiency in 3.7% (1/27), band 3 deficiency in 11.1% (3/27) and protein 4.2 deficiency in 14.8% (4/27). Membrane protein deficiencies were not observed in nine cases (33.3%, 9/27). Members of two of seven families tested showed the same protein defects as the proband. Ankyrin deficiency alone and combined with spectrin deficiency accounted for 33.3% of cases (9/27), and they were the most common biochemical defects in Korean HS cases. Protein 4.2 deficiency caused HS more frequently in Koreans than in Caucasians.
遗传性球形红细胞增多症（HS）是一种常见的遗传性红细胞膜疾病，其特征为慢性溶血性贫血。HS的临床表现和生化异常具有异质性。在本研究中，我们调查了27例韩国HS患者的红细胞膜蛋白缺陷情况。利用费尔班克斯系统和莱姆利系统，对红细胞膜蛋白进行了十二烷基硫酸钠聚丙烯酰胺凝胶电泳。蛋白质用考马斯亮蓝染色，凝胶用密度计扫描。我们检测到7.4%的病例（2/27）存在血影蛋白缺乏，29.6%（8/27）存在锚蛋白缺乏，3.7%（1/27）存在血影蛋白和锚蛋白联合缺乏，11.1%（3/27）存在带3蛋白缺乏，14.8%（4/27）存在蛋白4.2缺乏。9例（33.3%，9/27）未观察到膜蛋白缺乏。在检测的7个家族中的2个家族成员表现出与先证者相同的蛋白缺陷。单独的锚蛋白缺乏以及与血影蛋白缺乏联合共占病例的33.3%（9/27），它们是韩国HS病例中最常见的生化缺陷。与白种人相比，蛋白4.2缺乏在韩国人中更易导致HS。
