Global research trends and influential contributions in sickle cell disease: a bibliometric analysis of the top 100 cited papers.

Sickle cell disease (SCD) is one of the most common inherited hemoglobin disorders worldwide and remains a major cause of morbidity and mortality, particularly in low- and middle-income countries. Over the past several decades, SCD research has evolved from basic molecular investigations to clinical trials, epidemiological studies, and disease-modifying therapies. Highly cited publications represent the core scientific contributions that have shaped this field. This study aimed to analyze the top 100 most highly cited papers on SCD to identify influential publications, leading contributors, collaboration patterns, and major research hotspots. A bibliometric analysis was conducted using the Scopus database. English-language original articles and review papers published up to 31 December 2025 were retrieved using a predefined search strategy. Of 2,053 records identified, 2,031 relevant publications remained after screening and were ranked according to citation count. The top 100 most cited papers were selected for analysis. Bibliometric indicators including total citations (TC), citations per paper (CPP), relative citation index (RCI), and total link strength (TLS) were assessed. Network visualization and keyword co-occurrence analyses were performed using VOSviewer (version 1.6.20). The top 100 highly cited papers received between 347 and 7,694 citations, accumulating a total of 71,569 citations with a mean CPP of 715.69. Most publications (61%) were published between 1998 and 2023, while original research articles accounted for 83% of the dataset. The United States dominated highly cited SCD research, contributing 86 papers, 64,068 citations, and the highest TLS (71). Among institutions, the Medical College of Georgia and the University of Miami were leading contributors, while Elliott Vichinsky emerged as the most productive author. The New England Journal of Medicine published the largest number of highly cited papers (n = 29), whereas Science recorded the highest CPP (2270.8). Keyword co-occurrence analysis identified three major thematic clusters: (i) genetic and pathophysiological mechanisms, (ii) epidemiology and disease burden, and (iii) therapeutic interventions and clinical management. Highly cited SCD research is concentrated within a limited number of countries, institutions, authors, and high-impact journals, with the United States serving as the principal contributor. The intellectual structure of the field has evolved from fundamental molecular discoveries toward epidemiological research, clinical trials, and therapeutic innovations. These findings provide a comprehensive overview of the core literature in SCD and may help inform future research priorities, international collaborations, and evidence-based policy development.