Clinical, Economic,and Psychosocial Burden of Thalassemia in Sohag

Thalassemia constitutes one of the most common inherited hemoglobin disorders worldwide and remains a major public health problem in Egypt, where carrier rates approach 9-10% and both alpha and beta thalassemia gene defects are well documented in the population . In Egypt, the burden of disease is particularly evident among pediatric patients with transfusion dependent beta thalassemia (TDT), who require lifelong regular blood transfusions and iron chelation therapy and are consequently at risk of iron overload, organ damage, and transfusion transmitted infections despite improvements in transfusion safety .

Regional studies from Upper Egypt have documented a high frequency of transfusion related complications in multitransfused children, including elevated rates of hepatitis C and other infections, and have highlighted ongoing gaps in screening and blood safety practices that continue to contribute to clinical morbidity . Concurrently, quality of life (QoL) research in Egyptian pediatric thalassemia populations demonstrates consistent and clinically meaningful impairments across physical, emotional, social, and school functioning domains, with socioeconomic disadvantage and markers of greater disease severity (for example, higher ferritin and longer disease duration) associated with worse outcomes .

Beyond direct clinical consequences, thalassemia imposes a substantial economic and psychosocial burden on families and health systems . Cost analyses and health resource studies indicate significant direct medical expenses and large indirect costs from caregiver absenteeism, transport, and lost productivity, and these burdens are magnified in low resource settings where comprehensive social support is limited. Cultural factors such as high rates of consanguineous marriage and variable uptake of premarital screening in Egypt also influence disease prevalence and complicate prevention strategies

Primary outcomes

• Clinical burden of thalassemia [through study completion, an average of 1 year]: Clinical burden will be assessed using the frequency of hospital admissions, blood transfusion requirements, and disease-related complications among children and adolescents with thalassemia.
• Economic burden of thalassemia [through study completion, an average of 1 year]: Economic burden will be assessed based on direct medical costs, including costs of medications, blood transfusions, laboratory investigations, hospitalizations, and other healthcare utilization.
• Psychosocial burden of thalassemia [through study completion, an average of 1 year]: Psychosocial burden will be assessed using the Pediatric Quality of Life Inventory Version 4.0 Generic Core Scales (PedsQL 4.0), Family APGAR questionnaire, and Patient Health Questionnaire-4 (PHQ-4). The PedsQL 4.0 consists of 23 items and is scored on a 0-100 scale, with higher scores indicating better health-related quality of life. The Family APGAR consists of 5 items with a total score ranging from 0 to 10, with higher scores indicating better family functioning. The PHQ-4 consists of 4 items with a total score ranging from 0 to 12, with higher scores indicating greater psychological distress. The GAD-2 and PHQ-2 subscale scores each range from 0 to 6, with higher scores indicating greater anxiety and depressive symptoms, respectively.

Sex: All, ages: 2 Years to 18 Years

Inclusion Criteria: Children and adolescents diagnosed with thalassemia. Age from 2 to 18 years. Regular follow-up at the selected pediatric hematology clinic or thalassemia unit

Exclusion Criteria:Children with other chronic hematological disorders unrelated to thalassemia.

Children with severe acute illness at the time of data collection. Children or caregivers who refuse participation.

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