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[Genetic Analysis and Prenatal Diagnosis of a Family with Hereditary Spherocytosis Caused by a Novel Compound Heterozygous Mutation of SPTB Gene].

Zhongguo shi yan xue ye xue za zhi - 1 Apr 2022

Qin Yu-Mei, Liao Lin, Deng Xue-Lian, Huang Jian, Wei Hong-Ying, Lin Fa-Quan

Abstract excerpt

OBJECTIVE: To investigate the clinical and genetic characteristics of a family with hereditary spherocytosis (HS), to clarify the cause of the disease, and to provide the basis for genetic counseling and prenatal diagnosis. METHODS: The clinical data of proband and his parents were collected, and HS-related pathogenic genovariation of the proband was detected by high throughput sequencing. Suspected pathogenic...

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Source

Identifiers

PMID: 35395996
DOI: 10.19746/j.cnki.issn.1009-2137.2022.02.039

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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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