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Article

Exome sequencing confirms molecular diagnoses in 38 Chinese families with hereditary spherocytosis.

Science China. Life sciences - 1 Aug 2018

Wang Rongrong, Yang Shuanghao, Xu Ming, Huang Jia, Liu Hongyan, Gu Weiyue, Zhang Xue

Abstract excerpt

Hereditary spherocytosis (HS), the most common cause of congenital hemolytic anemia, is caused by deficiency of the erythrocyte membrane proteins. Five causative genes (ANK1, SPTB, SPTA1, SLC4A1, and EPB42) have been identified. To date, molecular genetic studies have been performed in different populations, including the American, European, Brazilian, Japanese and Korean populations, whereas only a few studies...

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Source

Identifiers

PMID: 29572776
DOI: 10.1007/s11427-017-9232-6

Genes

ANK1
SPTB
EPB42
SPTA1

Provenance

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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