ENOrphanet Journal of Rare Diseases | Narrative Medicine Reveals Multidimensional Challenges in Disease Awareness and Quality of Life Among Thalassemia Patients
Date: February 23, 2026
Classification: Frontiers
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This study employs narrative medicine to deeply explore the lived experiences of thalassemia patients and caregivers, revealing multiple barriers caused by insufficient disease awareness within healthcare systems, offering crucial insights for improving the quality of rare disease management.
Literature Overview
The article titled 'Narratives unveil knowledge and awareness-related issue, reinforcing patients’ self-identity in sickle cell disease,' published in Orphanet Journal of Rare Diseases, reviews and summarizes findings from the multicenter Italian 'Sickle Cell Anemia Narratives' (SCAN) project. Using narrative medicine, the study collected and analyzed anonymous narratives from 21 adult sickle cell disease (SCD) patients and 10 caregivers, aiming to understand the impact of SCD on quality of life and disease awareness from a multi-ethnic perspective. The study found that lack of SCD awareness significantly affects patient experiences across education, employment, and healthcare systems, and reveals similar caregiving burdens and social exclusion issues across cultural contexts. It emphasizes the importance of enhancing SCD awareness to improve patient self-identity, promote social integration, and optimize clinical management. The findings provide empirical support for building a more inclusive and coordinated rare disease care system.Background Knowledge
Sickle Cell Disease (SCD) is an autosomal recessive blood disorder caused by a point mutation in the β-globin gene, leading to the production of abnormal hemoglobin HbS, which triggers chronic hemolytic anemia and recurrent vaso-occlusive crises (VOCs), resulting in acute and chronic organ damage. The disease shows significant racial disparities globally, primarily affecting populations of African, Mediterranean, and Middle Eastern descent. Although classified as a rare disease, SCD exhibits multi-ethnic prevalence in countries with large immigrant populations such as Italy, posing unique challenges to healthcare systems. Current treatments for SCD remain centered on hydroxyurea, blood transfusions, and hematopoietic stem cell transplantation, with gene therapy showing recent progress but limited accessibility. Patients frequently face difficulties in pain management, employment discrimination, educational interruptions, and mental health issues, leading to significantly reduced quality of life. Previous studies have largely relied on questionnaires, which fail to capture the complexity of individual subjective experiences. Narrative medicine, as a qualitative research method, collects personal stories from patients and caregivers to deeply uncover the impact of disease on identity, family relationships, and social participation, thus addressing the limitations of traditional scales. However, systematic application of narrative medicine in rare diseases, particularly SCD, remains limited. This study fills that gap by focusing on SCD patients in a multi-ethnic context, exploring how lack of disease awareness exacerbates caregiving burdens across different life domains, offering new perspectives for developing culturally sensitive interventions.
Research Methods and Experiment
This study employed narrative medicine in the 'Sickle Cell Anemia Narratives' (SCAN) project, conducted in accordance with the Declaration of Helsinki and International Council for Harmonisation (ICH) guidelines, and received ethical approval (No. 264/2019). Participants included 21 adult SCD patients and 10 of their primary caregivers, recruited from seven SCD treatment centers and two patient associations in Italy. Eligible participants were at least 18 years old, diagnosed with SCD or acting as caregivers, and capable of writing or expressing themselves in Italian. Data were collected anonymously online via the Alchemer platform, including sociodemographic information and open-ended narratives. Narratives followed a disease-related storyline, organized chronologically to capture the evolution of illness experiences. All narrative texts were imported into NVivo software for coding analysis. The research team ensured consistency through collective coding and weekly peer discussions, using open interpretive coding to identify themes.Key Conclusions and Findings
Research Implications and Outlook
This study represents the first systematic application of narrative medicine in SCD, revealing how lack of disease awareness creates multiple barriers in education, employment, and healthcare, hindering social integration and reducing quality of life. The findings underscore the need to enhance SCD awareness at multiple levels—including healthcare provider training, public education, and policy development—to reduce misdiagnosis, improve care coordination, and eliminate stigma. Narrative medicine serves not only as a research tool but also as a clinical intervention to help patients reconstruct self-identity and strengthen psychological resilience.
Future studies should expand sample sizes and include more patients not covered by specialty centers to enhance representativeness. Additionally, integrating patient narratives into medical and general practitioner training could improve humanistic understanding of rare diseases. Establishing a more evenly distributed network of SCD specialty centers should also be prioritized to reduce regional disparities in access to care. Ultimately, combining quantitative and qualitative data can inform personalized, culturally adapted SCD management pathways, realizing a truly patient-centered care model.
Conclusion
This study uses narrative medicine to deeply explore the lived experiences of sickle cell disease patients and their caregivers, revealing the broad impact of insufficient disease awareness across education, employment, and healthcare systems. Findings show that regardless of ethnic background, lack of understanding of SCD commonly leads to misdiagnosis, care disruptions, and stigma, severely impairing quality of life and employment opportunities. Additionally, poor coordination between primary care and specialty centers further increases caregiving burden. Notably, writing personal illness narratives was seen by many participants as a psychological release and a means of reinforcing self-identity, indicating narrative medicine’s potential as both a research and clinical intervention tool. The study emphasizes that enhancing SCD awareness should be a public health priority, encompassing healthcare provider education, public awareness campaigns, and policy support. Strengthening awareness at multiple levels can effectively reduce diagnostic delays, improve pain management, and promote social integration. Future efforts should promote broader applications of narrative medicine, integrating it into patient-provider communication and medical education to build a more empathetic and culturally sensitive care system. This study provides critical empirical evidence for optimizing rare disease management, calling for a more balanced and integrated care network to achieve truly patient-centered healthcare.
