Global research landscape and thematic transitions in pyruvate kinase deficiency: a decadal bibliometric analysis...

Pyruvate kinase deficiency (PKD) is the most common cause of congenital non-spherocytic hemolytic anemia. This study systematically maps the scholarly output and evolving research trends in PKD over the past decade (2015-2025) to identify core contributors and track thematic trajectories.

Bibliographic records were retrieved from the Web of Science Core Collection (WoSCC) and analyzed quantitatively using CiteSpace, VOSviewer, and R-bibliometrix. To control for potential selection bias, a parallel supplementary search was conducted in PubMed and Scopus using identical query strings. PubMed yielded 15 unique non-overlapping eligible records, whereas Scopus returned 0. Given metadata disparities and small sample limits, these records were dedicated exclusively to exploratory qualitative thematic concordance verification rather than statistical network synthesis.

The primary WoSCC network isolated 90 core publications derived from 649 initial records after rigorous screening. Multi-database cross-validation confirmed a stable thematic alignment. Manual textual extraction of the 15 external PubMed records displayed precise semantic resonance with the core dataset's clusters, tracking a clear focus transition from baseline genotype mapping to targeted pyruvate kinase, R-type (PKR) activators (specifically mitapivat) and preclinical gene-editing interventions, without introducing divergent thematic anomalies.

The analytical framework indicates that the PKD research domain is characterized by an evolving therapeutic focus, progressing from foundational descriptive epidemiology and supportive care toward mechanism-based, targeted interventions. Current empirical evidence highlights PKR allosteric activation as the most clinically developed cluster, while gene therapy represents an active, early-stage investigational frontier.