Knowledge mapping and bibliometric insights into gene therapy for rare inherited hematologic pathologies: focus on sickle cell disease, hemophilia, and thalassemia

Abstract

Background: Inherited hematologic disorders such as sickle cell disease (SCD), thalassemia, and hemophilia are rare but devastating conditions with high morbidity and mortality. Advances in gene therapy have opened curative prospects. The objective of the current study was to provide a comprehensive bibliometric and knowledge-mapping analysis of global research on gene therapy targeting SCD, thalassemia, and hemophilia.

Methods: A Scopus-based bibliometric search was conducted for the period from 1986 to 2024. The search used title-specific queries for the target diseases and title-abstract queries for gene therapy technologies. Bibliometric indicators and network visualization maps, created by VOSviewer, were presented.

Results: A total of 1399 articles were retrieved. Publication growth revealed two phases: a steady, but slow phase (1986-2018), and mature expansion phase (2019-2024), with an average annual growth rate of 28% over the last decade. The articles had a mean of 47.6 citations/article and an H-index of 126. Research was mainly distributed across medicine (39.5%), biochemistry/genetics/molecular biology (30.7%), immunology (8.1%), and pharmacology/toxicology (7.5%), reflecting the multidisciplinary nature of the field. The most prolific journal was Blood (8.6%), followed by Hemophilia, Molecular Therapy, Human Gene Therapy, and Blood Advances. The United Stated dominated the field (n = 863; 61.7%), followed by China and the United Kingdom, with the United States showing strong intra-country collaborations, while European countries demonstrated high international collaborations, often with the United States. Leading institutions included the Children's Hospital of Philadelphia (7.5%) and University of Pennsylvania (5.9%). Co-authorship analysis revealed robust collaboration networks, with notable clusters around AAV-based hemophilia therapy and CRISPR-mediated gene correction for hemoglobinopathies. Keyword co-occurrence highlighted themes like AAV vectors, genome editing, CRISPR-Case9, and ex vivo hematopoietic stem cell modification. Overlay visualization maps indicated a recent surge in CRISPR and clinical applications research.

Conclusions: The bibliometric findings underscore the rapid evolution of gene therapy research for SCD, thalassemia, and hemophilia, moving from experimental approaches to clinical translation. The strong interdisciplinary collaboration, rising clinical trials, and emergence of genome editing tools suggest that the field is entering a transformative era, offering real-world therapeutic solutions for previously incurable inherited blood disorders.

Keywords: Bibliometric; CRSPR/Cas9; Gene editing; Gene therapy; Inherited hematologic disorders.