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Article

Two Novel PKLR Variants in Pyruvate Kinase Deficiency: Insights From Clinical, Molecular and Functional Analysis.

International journal of laboratory hematology - 1 Aug 2026

Xiang Huaxia, Wen Yuxiu, Yang Mengxin, Jiang Jiali, Li Yuping, He Changjin, Lin Zhihao, Wei Hongying

Abstract excerpt

INTRODUCTION: Pyruvate kinase deficiency (PKD) is a rare cause of hereditary non-spherocytic hemolytic anemia. This study reports the clinical and molecular characterization of three pediatric PKD cases, focusing on two novel PKLR variants. METHODS: Clinical and laboratory data were reviewed. PKLR gene was analyzed by next-generation sequencing and validated by Sanger sequencing. Pathogenicity was predicted using...

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Identifiers

PMID: 42049675
DOI: 10.1111/ijlh.70125
PMCID: PMC13357903

Genes

PKLR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 25 Oct 2026.

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