Revisão sistemática sobre a aplicação do método diagnóstico CATSA e a avaliação das sequelas da sobrecarga de ferro em pacientes com beta

Abstract

Introduction: β-thalassemia is an inherited hemoglobin disorder characterized by reduced or absent synthesis of β-globin chains, resulting in ineffective erythropoiesis, hemolysis, and anemia of varying severity. In patients receiving recurrent blood transfusions, iron overload represents a major complication and may lead to cardiovascular, hepatic, and endocrine impairment. In this context, advanced molecular methods, such as the Comprehensive Analysis of Thalassemia Alleles (CATSA), have expanded the ability to identify rare variants and complex genotypes. Objective: To analyze, through a systematic review, the application of CATSA and other diagnostic methods in β-thalassemia, considering their contribution to the molecular characterization of the disease, clinical management, and assessment of complications associated with iron overload. Methods: A systematic review was conducted using scientific databases and included original articles and case reports published between 2020 and 2025. Hematological, biochemical, and molecular approaches were analyzed, as well as parameters related to sensitivity, specificity, accuracy, benefits, limitations, and laboratory feasibility of the diagnostic methods. The selection process resulted in the inclusion of 10 studies. Results: The analyzed evidence indicated that molecular methods, particularly CATSA, provide an enhanced ability to identify rare genetic variants and complex genotypes compared with conventional diagnostic approaches. Molecular characterization may contribute to clinical decision-making regarding blood transfusions, iron chelation therapy, and prevention of complications. The review also highlighted the importance of early diagnosis and genetic counseling, as well as sex-related differences in iron overload and treatment response. However, high costs, the need for specialized infrastructure, and the availability of trained professionals remain important limitations to CATSA implementation. Conclusion: CATSA represents a promising strategy for improving the molecular diagnosis of β-thalassemia, particularly in cases involving rare variants or complex genotypes. Its integration with conventional hematological and biochemical methods may improve diagnostic accuracy and support individualized clinical management. Nevertheless, widespread implementation will require overcoming economic, structural, and laboratory barriers.