Saad S T, Costa F F, Vicentim D L, Salles T S, Pranke P H
Clinical Medicine Department, State University of Campinas, SP, Brazil.
Br J Haematol. 1994 Oct;88(2):295-9. doi: 10.1111/j.1365-2141.1994.tb05021.x.
We studied 14 kindred and nine unrelated patients from southeastern Brazil with the typical form of hereditary spherocytosis. Diagnosis was made on the basis of clinical features, presence of spherocytes on the peripheral blood smears and an abnormal osmotic fragility test. By densitometric tracing of SDS-PAGE stained by Coomassie blue, we detected isolated deficiency of spectrin in 39% of our patients, combined spectrin and ankyrin deficiency in 13%, and deficiency of band 3 in 13%. One of our patients presented ankyrin deficiency without spectrin reduction. Our data suggest that, despite ethnic differences among the Brazilian and European or North-American populations, these biochemical abnormalities in HS patients may be similar.
我们研究了来自巴西东南部的14个家族以及9名散发性患者，他们均患有典型形式的遗传性球形红细胞增多症。诊断基于临床特征、外周血涂片上出现球形红细胞以及异常的渗透脆性试验。通过考马斯亮蓝染色的SDS-PAGE光密度扫描，我们在39%的患者中检测到单独的血影蛋白缺乏，13%的患者同时存在血影蛋白和锚蛋白缺乏，13%的患者存在带3蛋白缺乏。我们的一名患者表现为锚蛋白缺乏而血影蛋白未减少。我们的数据表明，尽管巴西人群与欧洲或北美人群存在种族差异，但遗传性球形红细胞增多症患者的这些生化异常可能是相似的。
