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Clinical manifestations of erythrocyte membrane protein coding gene mutations in hereditary spherocytosis



Clinical manifestations of erythrocyte membrane protein coding gene mutations in hereditary spherocytosis



Zhonghua Xue Ye Xue Za Zhi 39(11): 912-916



目的: 探讨遗传性球形红细胞增多症(HS)红细胞膜蛋白基因突变与患者临床表现的关系。 方法: 对25例HS患者的HS常见突变进行靶向测序,并根据突变与患者临床特征评估两者相关性。 结果: 25例患者中男13例,女12例,中位年龄20(4~55)岁。中位HGB为105(65~150)g/L,其中代偿性溶血9例,轻度贫血9例,中度贫血3例,重度贫血4例。18例(72%)患者携带与HS致病相关的基因突变,包括6例ANK1突变、6例SLC4A1突变、5例SPTB突变和1例EPB41突变;7例(28%)无相关突变。SPTB突变与SLC4A1突变患者中以男性为主,携带基因突变的HS患者发病年龄(P=0.130)与HGB水平(P=0.585)与无突变患者差异无统计学意义,但EMA标记缺失的程度(P=0.015)、酸化甘油溶血试验(AGLT50)(P=0.032)以及红细胞渗透脆性试验(EOF)开始溶血浓度(P=0.027)显著高于无突变患者。 结论: HS红细胞膜蛋白基因突变筛查对明确诊断有指导意义,无突变患者临床溶血表现较轻。.

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Accession: 065729664

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PMID: 30486587


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