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Article

Clinical and molecular genetic analysis of a Chinese family with hereditary elliptocytosis caused by a novel mutation in the EPB41 gene.

Journal of clinical laboratory analysis - 1 Jun 2021

Cao Manxiong, Huang Zhanqin, Zhou Huanbing, Lin Jinghua, Zhang Dongqing

Abstract excerpt

BACKGROUND: Hereditary elliptocytosis (HE) is a heterogeneous red blood cell membrane disorder characterized by the presence of elliptocytes on a peripheral blood smear. Clinical manifestations of HE vary widely from asymptomatic carriers to patients with severe transfusion-dependent anemia. Most patients are asymptomatic or have mild anemia, which hinders diagnosis. The proband in this case had mild anemia and...

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Identifiers

PMID: 33942936
DOI: 10.1002/jcla.23781
PMCID: PMC8183902

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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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