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Identification of novel variants in hereditary spherocytosis patients by whole-exome sequencing.

Clinica chimica acta; international journal of clinical chemistry - 15 Jan 2025

Qin Li, Jia Yujiao, Wang Haoxu, Feng Yuan, Zou Junyan, Zhou Jianfeng, Yu Changshun, Huang Bingqing, Zhang Ruixue, Shi Lihui, Xiao Jigang, Zhao Yuping, Sun Qi, Xiao Zhijian, Wang Huijun

Abstract excerpt

Defects in erythrocyte membrane proteins can cause the most common type of inherited hemolytic anemia, so called hereditary spherocytosis (HS). It is characterized by the appearance of spherocytes in peripheral blood, hemolytic anemia, splenomegaly, jaundice and gallstones. Due to difficulty of diagnosis solely based on aforementioned parameters, the addition of genetic testing seems to be effective and most...

Topics

Humans
Spherocytosis, Hereditary
Male
Female
Exome Sequencing
Child
Mutation
Child, Preschool
Adolescent
Adult
Young Adult

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Infant

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PMID: 39378964
DOI: 10.1016/j.cca.2024.119989

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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