Identification of a novel heterozygous SPTB mutation by whole genome sequencing in a Chinese patient with hereditary spherocytosis and atrial septal defect: a case report

Identification of a novel heterozygous SPTB mutation by whole genome sequencing in a Chinese patient with hereditary spherocytosis and atrial septal defect: a case report

Abstract Background Hereditary spherocytosis (HS) is a common inherited red blood cell membrane disorder characterized by an abnormal increase of spherocytes in peripheral blood. SPTB gene mutation is one of the most common causes of HS; however, few cases of HS resulting from SPTB mutation in the C...

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Bibliographic Details
Main Authors: Zhanhui Du, Gang Luo, Kuiliang Wang, Zhen Bing, Silin Pan
Format: Article
Language:English
Published: BMC 2021-06-01
Series:BMC Pediatrics
Subjects:
Hereditary spherocytosis
Atrial septal defect
SPTB mutation
Whole genome sequencing
Case report
Online Access:https://doi.org/10.1186/s12887-021-02771-4

Internet

https://doi.org/10.1186/s12887-021-02771-4

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