Clinical outcome and genotype analysis of four Chinese children with pyruvate kinase deficiency.

ABSTRACT:

Background

Pyruvate kinase deficiency (PKD) is a rare congenital hemolytic anemia. Here, we summarized the clinical features and laboratory examinations of four Chinese children with PKD and analyze genomic mutations.

Method

Collected and analyzed the clinical data of all children and their parents and completed the relevant laboratory examinations of all children. Analyzed the sequences of related genes in children by second-generation sequencing technology and verified the suspected mutations in children's family by Sanger sequencing method or second-generation sequencing technology.

Results

A total of six mutations in gene PKLR were detected in four cases. Except for c.1510C>T (P1) and c.941T>C (P2 and P4), which had been reported in previous studies, the other fou

SUBMITTER: Xie F 

PROVIDER: S-EPMC10655518 | biostudies-literature | 2023 Jul

REPOSITORIES: biostudies-literature