Descriptive Epidemiology And Clinical Attributes Of Beta-Thalassemia In Upper Sindh Region Of Pakistan

Objective: Thalassemia is a hereditary blood disorder that affects hemoglobin synthesis, leading to anemia and other complications. This study investigated the demographic, clinical, therapeutic, and familial characteristics of beta-thalassemia patients from the upper Sindh region of Pakistan. Methods: Through an observational cross-sectional study design, thalassemia patients registered at local hospitals and transfusion centers in upper Sindh, Pakistan, were enrolled. For enrollment from rural areas, random door-to-door surveys were carried out. A structured proforma was used to collect information, and descriptive statistics were employed. Results: Of the 360 patients from independent families recruited (58% males, 42% femaleswere diagnosed with thalassemia major and 12% with thalassemia minor. Majority of the patients with thalassemia major were up to the age of 5 years (p<0.0001) and with low body weight (p<0.0001); and majority received first transfusion within first year of life (p<0.0001). Iron overload was prevalent in 86% of patients; conversely, however, only 4% of patients were receiving iron chelation therapy. The patients had 106 affected siblings and a total of 152 thalassemia-related mortalities were reported across 94 families. Pedigree analysis revealed recurring losses within families highlighting the severe impact of the disease and the limitations of current medical interventions. Conclusion: This cohort study illustrates the extensive socio-economic, familial, and clinical challenges faced by transfusion-dependent thalassemia patients, particularly those from rural, low-income communities in Pakistan. This research highlights the necessity for preventive public health measures, such as genetic counseling and community education to mitigate the long-term impacts of thalassemia within vulnerable populations. Keywords: Anemia, Thalassemia Major, Thalassemia Minor, beta Thalassemia, Cooley's Anemia, Consanguinity, Transfusion