Health Related Quality of Life in Transfusion Dependent Patients with Beta Thalassemia at a Resource Constrained Center
Authors: Naseeb Summaira , Ahmed Parvez , Mahmood Syed Karman , Chaudhry Qamar Un Nisa , Abbasi Sumyyia , Peter Hina , Ur Rahman Khalil , Fatima Mehroz , Wazir Zuhra , Bahadur Laila , Barlas Sidra 
Published: December 2024

Background: Beta Thalassemia is a prevalent genetic disorder of hemoglobin affecting a significant portion of the global population with approximately 3% of people worldwide being carrier of the gene. About 5% of the population in Pakistan carry the genes for Beta Thalassemia, leading to approximately 5,000 new diagnoses each year. Majority of the patients are treated with regular red blood cell transfusions combined with iron chelation, few being able to afford definitive treatment in the form of allogeneic bone marrow transplant (BMT). Due to high disease burden and lack of adequate health care facilities the patients get inadequate blood transfusions and suboptimum iron chelation leading to numerous complications, early death and quality of life (QoL) problems.
Objective: To evaluate health related quality of life in transfusion dependent beta Thalassemia patients registered at a single center
Study Design: Cross sectional observational study
Place and duration of the study: The study was conducted on patients treated at Pakistan Thalassemia Welfare Society (Pathwel) Center of Hematology and BMT Rawalpindi, Pakistan for at least one year between January 2006 to June 2024.
Methodology: We evaluated 136 patients of transfusion dependent beta thalassemia with age range of 2-35 years and registered for more than 1 year at the center. Patients with age less than 2 years, those receiving hydroxyurea, undergoing BMT or registered for less than 1 year were excluded from the study. A face to face interview with structured questionnaire was used for data collection. Caregivers were interviewed for children of less than 10 years of age. Modified version of World Health Organization Quality of Life Brief Version (WHOQoL-BREF) questionnaire assessing 4 domains of QoL i.e. physical health, psychological health, social health and environment was used. IBM SPSS statistics version 23 was used for statistical analysis.
Results: The estimation of health-related quality of life (HRQoL) in beta thalassemia patients provides important insights in the disease and its management. Majority of the responders were patients themselves 52.2% vs. caregivers 47.8%. All the 136 patients were transfusion dependent, 52.2% were female, 47.8% male, 84.6% were children and 15.4% adults. Mean age of the patients was 10.72 years (range 2-35, SD = 6.85).Out of 120 school-going age patients 68.3% were attending school, 22.5% had never been to any school, 9.1% left education at some point due to health related problems. Forty one percent of the patients had access to public transport for coming to thalassemia center for treatment while 39% faced difficulty reaching hospital and used private taxis. Only 58% patients underwent regular medical checkup from their GPs, 3.7% had irregular follow up visits. Socioeconomic status was; 39% upper middle class, 39.7% lower middle class and 21.3% poor. About half of the patient's socioeconomic status was affected by their disease, 46.3% did not had any effect while 3.7% were unaware of any effect. Forty five percent patients needed once a month red cell transfusion, 38.2% twice a month and 16.9% more than twice a month. According to 69.1% responders blood at the center was easily available while 28.7% had difficulty in getting blood for transfusion. Majority of them had either Rh negative blood groups or preformed antibodies. Mean pre-transfusion hemoglobin was 7.3 g/dl (SD=1.2).Hepatitis B Vaccination status revealed; 83.1% vaccinated, 8.1% not vaccinated while 8.8% were unaware of their vaccination status. Hepatitis C positivity was seen in 25% of the patients at some point of life while 2.2% were positive for hepatitis B. Eight out of the 23 patients with transfusion requirement more than twice a month had positivity for hepatitis C.
Conclusion: This study underscored the considerable negative impact of thalassemia and its treatment on health-related quality of life (HRQoL), particularly due to comorbidities, availability of the blood, low income and lack of adequate knowledge about the disease. It suggests that adjusting current thalassemia management and care practices could be beneficial. Implementing psychosocial and counseling programs could help patients discuss and accept their condition, support a normal lifestyle, and strengthen connectivity among patients, schools, families, and healthcare providers leading to improved HRQoL and academic performance.