Miraglia del Giudice E, Iolascon A, Pinto L, Nobili B, Perrotta S
Department of Paediatrics, Second University of Naples, Italy.
Br J Haematol. 1994 Sep;88(1):52-5. doi: 10.1111/j.1365-2141.1994.tb04976.x.
Hereditary spherocytosis (HS) is a very heterogenous condition both at clinical and biochemical level. To establish the relationship between these aspects we performed a clinical and biochemical study in 87 Italian HS subjects. Patients were divided into three groups based on clinical severity (mild, typical and severe) and into five subgroups based on specific membrane abnormalities identified by polyacrylamide gel electrophoresis (isolated spectrin deficiency, spectrin deficiency combined with mild ankyrin reduction, spectrin deficiency combined with severe ankyrin reduction, band 3 reduction and isolated protein 4.2 reduction). We were not able to assess any alteration in six HS patients. A good correlation between clinical HS forms and membrane protein defects is shown. We conclude that erythrocyte membrane analysis should be carried out after diagnosis of HS in order to predict the clinical course of the disease.
遗传性球形红细胞增多症（HS）在临床和生化水平上都是一种高度异质性的病症。为了确定这些方面之间的关系，我们对87名意大利HS患者进行了临床和生化研究。患者根据临床严重程度分为三组（轻度、典型和重度），并根据聚丙烯酰胺凝胶电泳确定的特定膜异常分为五个亚组（孤立性血影蛋白缺乏、血影蛋白缺乏合并轻度锚蛋白减少、血影蛋白缺乏合并重度锚蛋白减少、带3减少和孤立性蛋白4.2减少）。我们无法评估6名HS患者的任何改变。临床HS形式与膜蛋白缺陷之间显示出良好的相关性。我们得出结论，应在HS诊断后进行红细胞膜分析，以预测疾病的临床进程。
