Major β-thalassemia: early diagnosis and increased survival Talasemia

Abstract

Objective: To describe early diagnosis strategies and multidisciplinary management of beta thalassemia major, aiming to improve the quality of life and provide appropriate treatment for a patient, based on a case report. Case Detail: Eight-year-old male patient, full-term gestation and delivery without complications, and normal neonatal screening. At two months, presented weak sucking, hypoactivity, drowsiness, pallor of the skin and mucous membranes, jaundice, and severe microcytic and hypochromic anemia. Blood transfusion was performed, and a hypothesis of hereditary hemoglobinopathy was raised. At 3 months, diagnosed with beta thalassemia major, initiating treatment with transfusions and iron chelators. Currently, he is under regular follow-up, receiving treatment, and undergoing periodic monitoring with tests. Final Considerations: Early diagnosis is crucial to improve survival in beta thalassemia major, emphasizing diagnostic advancements. Multiple therapeutic options, such as transfusions, oral iron chelators, bone marrow transplants, and gene therapy, enhance the quality of lif e, although challenges related to transfusions affect treatment adherence. Despite its limitation to a single case, the study highlights the need for further research to improve outcomes and patients' lives.