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Article

Novel compound heterozygous SPTA1 mutations in a patient with hereditary elliptocytosis.

Molecular medicine reports - 1 Apr 2018

Ma Shiyue, Qin Jinqiu, Wei Aiqiu, Li Xiaohong, Qin Yuanyuan, Liao Lin, Lin Faquan

Abstract excerpt

Hereditaryelliptocytosis (HE) is a hereditary hemolytic disease, characterized by the presence of many elliptical erythrocytes in the peripheral blood that is caused by abnormal cytoskeletal proteins in the erythrocyte membrane. In the present study, a novel, causal HE mutation was reported. Routine blood examinations were performed on the proband and their family, and the fluorescence intensity of...

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Topics

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Share to Amino Acid Substitution
Share to Elliptocytosis, Hereditary

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Erythrocyte Indices

Share to Erythrocyte Membrane

Share to Erythrocytes, Abnormal

Share to Heterozygote

Share to Spectrin

Share to Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization

Source

Open in PubMed Open full text

Identifiers

PMID: 29484404
DOI: 10.3892/mmr.2018.8632
PMCID: PMC5866036

Genes

SPTA1
SDS

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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