Addressing complexities in β-thalassemia care: a case series from a resource-limited setting

Abstract

Introduction and importance: β-thalassemia is a hereditary blood disorder with a global prevalence, presenting diagnostic and management challenges, particularly in regions with high consanguinity rates. Diagnostic methods include clinical assessments, genetic testing, and hemoglobin electrophoresis. Treatment typically involves transfusions and chelation therapy, with gene therapy showing promise. This case series emphasizes the need for tailored care strategies and global health initiatives to improve outcomes for β-thalassemia patients worldwide. Methods: This case series involves five patients from rural Nepal presenting various β-thalassemia manifestations. The cases highlight the challenges in diagnosis and management in resource-limited settings. Data were collected through clinical assessments, laboratory investigations, and follow-ups. Each patient’s medical history, presentation, and treatment regimen were documented. Outcomes: The cases underscore the importance of regular follow-ups, community engagement, and personalized treatment strategies tailored to genetic profiles. Key findings include the necessity for consistent transfusion schedules, iron overload monitoring, and managing complications associated with β-thalassemia. Enhanced education and healthcare collaboration were noted as critical for optimizing care and outcomes in resource-limited settings. Conclusions: Managing β-thalassemia in resource-limited settings demands timely intervention, regular monitoring, and community involvement. Enhanced healthcare collaboration, access to advanced diagnostic tools, and tailored treatment strategies are paramount in addressing the unique challenges of β-thalassemia. These measures are essential for ensuring an improved quality of life for affected individuals in such regions.