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Article

The updated beta-spectrin mutations in patients with hereditary spherocytosis by targeted next-generation sequencing.

Journal of human genetics - 1 Dec 2021

Fan Junjie, Yao Lilan, Lu Daru, Yao Yanhua, Sun Yina, Tian Yafei, Mou Li, Chen Linbo, Zhao Letian, Qiao Shenglong, Hu Shaoyan, Zhu Yijian

Abstract excerpt

Hereditary spherocytosis (HS) with hemolysis, splenomegaly, and jaundice as the main clinical symptoms varied in different population and SPTB mutated rate is common except for ANK1 in the Chinese population, whereas only a few studies have been reported. Here, 11 Chinese pediatric patients with newly SPTB mutations detected by targeted next generation sequencing technology were included and analyzed in our...

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Identifiers

PMID: 34140613
DOI: 10.1038/s10038-021-00946-6

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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