Clinical Focus ›› 2021, Vol. 36 ›› Issue (11): 1019-1023.doi: 10.3969/j.issn.1004-583X.2021.11.012

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Hereditary spherocytosis caused by SPTB gene hybrid mutation: a case report

Wen Xue, Zhang Zhihua, Zhang Rongjuan, Hao Changlai()   

  1. Department of Hematology, Affiliated Hospital of Chengde Medical University, Chengde 067000, China
  • Received:2021-08-23 Online:2021-11-20 Published:2021-12-01
  • Contact: Hao Changlai E-mail:haochanglai882@163.com

Abstract:

Retrospective analsis concerned with the clinical data of a patient with hereditary spherocytosis (HS), and SWISS-MODEL software used for protein structure prediction of SPTB gene mutation. The literatures were reviewed. Blood routine of the patient in clinic showed anemia, RBC, WBC and platelet decreased. Gene sequencing analysis proved that heterozygous mutation of SPTB gene c.5551C>T (exon26, NM_001355436) underwent spontaneous mutation. Protein structure prediction was c.5551C>T (p.Q1851X) mutation caused protein truncation mutation, and merged with heterozygous mutation of ANK1 gene c.1495G>T (p.A499S). The mutation site was agnate source, and non-pathogenic gene was confirmed.

Key words: spherocytosis,hereditary, SPTB gene, ANK1 gene, protein structure prediction

CLC Number: