New Insights into Pathophysiology, Hearing Loss, Efficiency, Height, Kidney Growth Complications, Treatment and Other Alternatives in β Thalassemia Patients
Review
DOI:
https://doi.org/10.33005/jdiversemedres.v3i9.379Keywords:
beta thalassemia, growth impairment, hearing loss, Pathophysiology, renal complicationsAbstract
Beta-thalassemia is a common autosomal recessive hemoglobin disorder and a significant global health concern, particularly in tropical regions. Southeast Asia accounts for approximately 50% of the world’s thalassemia carriers. The disease results from mutations in the β-globin gene that disrupt hemoglobin synthesis, causing an imbalance in α and β-globin chain production. This imbalance contributes to ineffective erythropoiesis, chronic anemia, tissue hypoxia, compensatory hematopoietic expansion, and iron overload. This narrative literature review examined English language publications retrieved from PubMed, Google Scholar, and the Cochrane Library to explore the pathophysiology, clinical complications, and therapeutic approaches associated with β-thalassemia. β-thalassemia might be associated with impaired growth, hearing loss, renal dysfunction, and reduced bone mineral density. These complications can arise from disease-related mechanisms, iron overload, and treatment-related factors. Conventional management incudes blood transfusion and iron chelation, while emerging therapies, such as luspatercept, can reduce transfusion requirements in eligible patients. Early detection and genetic counseling are also important components of disease prevention. Understanding the pathophysiology and clinical manifestations of β-thalassemia is essential for optimizing disease management. Appropriate monitoring, individualized treatment, and preventive strategies also can help reduce complications and improve patient outcomes.
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