期刊
NEONATOLOGY
卷 106, 期 4, 页码 355-357出版社
KARGER
DOI: 10.1159/000365586
关键词
Hereditary spherocytosis; Jaundice; Anemia; Neonate; Hemolysis; alpha-Spectrin
类别
We evaluated a neonate with severe jaundice but a negative family history. Spherocytes were present and suspected hereditary spherocytosis was confirmed by osmotic fragility and eosin-5-maleimide erythrocyte staining. We found he was a compound heterozygote for two pathogenic mutations in the gene encoding alpha-spectrin: a previously reported alpha(LEPRA) inherited from his asymptomatic mother, and a novel alpha-spectrin mutation in intron 45 + 1 disrupting the consensus splice site, from his asymptomatic father. (C) 2014 S. Karger AG, Basel
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据