Serviço de Bioquímica, Faculdade de Farmácia da Universidade do Porto, Rua Aníbal Cunha, Porto, Portugal.
Br J Haematol. 2010 Jun;149(5):785-94. doi: 10.1111/j.1365-2141.2010.08166.x. Epub 2010 Mar 21.
Hereditary Spherocytosis (HS) is a haemolytic anaemia caused by erythrocyte protein membrane defects - spectrin, ankyrin, band 3 or protein 4.2 - that lead to membrane destabilization. This study aimed to evaluate the prevalence of protein deficiencies and the role of membrane proteins or membrane-linked proteins in membrane disturbance and in HS clinical outcome. A total of 215 Portuguese individuals were studied - 203 from 71 families plus 12 individual unrelated subjects; 160 of them were diagnosed with HS. They were classified as presenting mild, moderate or severe forms of HS according to the degree of haemolytic anaemia. Standardized electrophoretic erythrocyte membrane protein analysis was used to identify and quantify protein deficiencies. Band 3 and ankyrin were found to account for the majority of the erythrocyte protein defects underlying HS. Increasing isolated protein deficiency or increasing imbalance between combined protein deficiencies seemed to underlie HS severity, by increasing membrane destabilization. There was an increased membrane linkage of the cytosolic proteins, glyceraldehyde-3-phosphate dehydrogenase and peroxiredoxin 2, and of denatured haemoglobin, suggesting that this linkage could interfere with membrane structure. Our data suggest that the quantification and the analysis of RBC membrane proteins may be helpful in predicting the clinical outcome of HS.
遗传性血影细胞增多症（HS）是一种溶血性贫血，由红细胞蛋白膜缺陷引起 - 血影蛋白、锚蛋白、带 3 或蛋白 4.2 - 导致膜不稳定。本研究旨在评估蛋白缺乏的流行率以及膜蛋白或膜连接蛋白在膜干扰和 HS 临床结果中的作用。总共研究了 215 名葡萄牙人 - 71 个家庭的 203 名加 12 名无关个体；其中 160 名被诊断为 HS。根据溶血性贫血的程度，将其分为轻度、中度或重度 HS。标准化电泳红细胞膜蛋白分析用于鉴定和定量蛋白缺乏。发现带 3 和锚蛋白占 HS 下大多数红细胞蛋白缺陷。孤立蛋白缺乏的增加或联合蛋白缺乏的失衡似乎会通过增加膜不稳定来导致 HS 严重程度的增加。细胞溶质蛋白甘油醛-3-磷酸脱氢酶和过氧化物酶 2 以及变性血红蛋白的膜连接增加，表明这种连接可能会干扰膜结构。我们的数据表明，定量和分析 RBC 膜蛋白可能有助于预测 HS 的临床结果。
