杨 兰,徐睿霞,蔡 鑫

本文报道1例生后24小时内出现黄疸、持续性贫血病例，完善基因测序患儿存在SPTB基因（NM-001355436.2）：c.2881G＞C（p.Val961Leu）杂合突变，结合患儿当前临床症状、实验室数据支持，可确诊为遗传性球形红细胞增多症。

遗传性球形红细胞增多症；新生儿；SPTB基因；黄疸；贫血

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