Evaluation of quality of life in adult patients with hemoglobinopathy and investigation of the associated clinical parameters

Aim: Hemoglobinopathies are inherited blood disorders that arise due to genetic mutations affecting the synthesis or structure of the hemoglobin molecule. These disorders are primarily classified into two main groups, with thalassemia syndromes and structural hemoglobin variants being the most commonly encountered subtypes. Individuals diagnosed at an early age face a lifelong burden of chronic illness, including recurring transfusion requirements, the development of complications, and various physical, psychological, and social challenges related to the treatment process. As chronic illnesses affect not only the physiological but also the social and emotional functioning of individuals, quality of life assessment is currently considered a key monitoring parameter in patient management. This study aims to assess the quality of life in adult patients with hemoglobinopathies and to examine the influence of demographic characteristics and clinical parameters (such as transfusion frequency, presence of complications, laboratory findings, etc.) on quality of life. Additionally, by comparing patients' quality of life scores with those of a healthy control group, the study seeks to reveal the impact of disease burden on quality of life. Materials and Methods: This descriptive and analytical cross-sectional study included adult individuals diagnosed with transfusion-dependent hemoglobinopathy who applied to the Department of Internal Medicine at Çukurova University Faculty of Medicine, as well as healthy volunteers forming the control group. The study enrolled 50 patients with transfusion-dependent thalassemia (TDT), 7 patients with sickle cell anemia (SCA), and 50 healthy individuals. Sociodemographic information, clinical data, and current laboratory findings were recorded for all participants. Quality of life was assessed using the Short Form Health Survey (SF-36) and the TranQol questionnaire, which is specifically designed for patients with transfusion-dependent thalassemia. Data were analyzed using SPSS version 25.0, with appropriate parametric and non-parametric tests applied for intergroup comparisons. Relationships between quality of life scores and demographic/clinical variables were evaluated through correlation analyses and group comparisons. Data related to the SCA group were presented using descriptive statistics, while comparative analyses were conducted between the TDT and control groups. Results: Quality of life scores were significantly lower in the TDT group compared to healthy controls (p < 0.05). Significant differences were found in SF-36 subscales such as physical functioning, role-physical, and general health perception. The disease-specific TranQol instrument showed higher sensitivity in detecting impairments, particularly in physical, emotional, and school/work functioning domains. At least one systemic complication was present in 68% of the TDT patients, with hepatic (48%), endocrine (40%), and cardiac (30%) complications being the most common. Quality of life scores were significantly higher in patients without complications. Statistically significant correlations were found between several QoL domains and variables such as age, ferritin, hemoglobin, MPV, vitamin D, and ESR. Conclusion: Quality of life in patients with transfusion-dependent hemoglobinopathies is closely associated with disease burden and systemic complications. The TranQol scale appears to be a sensitive and disease-specific tool for clinical follow-up. These findings emphasize the importance of integrating QoL assessment into routine care and adopting a multidisciplinary management approach. Keywords: Transfusion-dependent thalassemia, Sickle cell anemia, Quality of life, TranQol, SF-36