The Reality of Beta Thalassemia and Iron Chelation Therapy - a Qualitative Study Unveiling the Patient Burden
Authors: Hartford Chris , Delevry Dimittri , Wilding Sarah , Cleanthous Sophie , Sadana Vidhi , Tinsley Jasmin , Singh Nikhil , Pavani Rodrigo , Perlee Lorah , Forni Gianluca , Rofail Diana 
Published: December 2024

Background: Beta thalassemia (BT) is an inherited blood disorder, resulting in anemia. Chronic blood transfusions are one of the most common therapies to treat BT; however, they are burdensome for patients, requiring regular visits to transfusion centers, negatively impacting patient quality of life (QoL). In both transfusion dependent and non-transfusion dependent BT, iron overload (IOL) is a common complication; if left untreated, IOL may result in organ damage and mortality. IOL is typically treated via iron chelation therapy (ICT), which greatly improves life expectancy, however, ICT is associated with many side effects. This highlights an unmet need and a call for a deeper understanding of the collective patient experience, capturing both the impact of BT with the associated complications of chronic transfusions, IOL and ICT.
Aims: This research was directed at conceptualizing the complete experience of living with BT, including the impact of receiving blood transfusions and ICT (hereafter referred to as “the patient BT experience”). Findings from this research were used to develop a conceptual model (i.e., a visual representation of patients' health experiences showing relationships between concepts, sub-domains, and domains) of the patient BT experience.
Methods: A targeted literature search using PubMed was conducted to identify studies published in the last 20 years evaluating the patient BT experience, including IOL and ICT. Articles were included if they reported results of studies using a qualitative approach to data collection in patients with BT (e.g., interviews, focus groups, or patient panels); articles were excluded if the study population was &lt;12 years old, did not use qualitative methodology, or did not present results of a BT patient sample. This search was supplemented by a review of patient stories and blogs identified from BT-specific patient advocacy and medical association websites (e.g., Cooley's Anemia Foundation, Northern California Comprehensive Thalassemia Center, Thalassemia Support Foundation, Centers for Disease Control and Prevention, and United Kingdom Thalassemia Society). Information from all sources was extracted to identify signs, symptoms, treatment experiences, and impact of disease as reported from the patient perspective. These data were taken through an iterative process of grouping into categories (i.e., “domains” and “sub-domains”) to create a preliminary conceptual model of the patient BT experience. Semi-structured, concept elicitation interviews were then conducted with hematologists with a minimum of 5 years' experience treating patients with BT, to obtain a deeper understanding of the patient BT experience and to verify the appropriateness of the content within the preliminary conceptual model.
Results: Eight articles from PubMed and 36 patient stories from six blogs/websites were identified and used to develop the preliminary conceptual model, comprised of three overarching domains: BT-related, treatment-related, and management-related concepts. Sub-domains included cardiorespiratory, fatigue, general symptoms, impacts on daily activities, psychological impacts, professional impacts, impacts on relationships, the impact of symptoms or tolerability associated with infusion ICT, oral ICT and transfusions, and patients' support and coping mechanisms. Clinicians suggested adding the following new concepts to the preliminary conceptual model: thrombosis, skin and leg ulcers, chest pain, headaches, dizziness, trouble sleeping, skeletal changes, physical abnormalities, endocrine issues (including insulin resistance and thyroid damage), bone weakness, restless leg, ineffective erythropoiesis, and increased iron absorption. Transfusions and experiences related to IOL were reported as major contributors to the significant burden on patients and as key areas of unmet need.
Conclusion: This research highlights the significant burden associated with BT, transfusions, IOL, ICT, and the resulting high impact on QoL. Reducing the burden associated with blood transfusions and IOL is a key unmet need identified by clinicians. Interviews with patients will be conducted to consolidate the conceptual model and elucidate which experiences are important from the patients' perspective.