Assessing the suitability of non-molecular methods for screening beta-thalassemia carriers: clinical insights from laboratory data

AUTORI

ABSTRACT

Introduction: this study evaluates non-molecular methods for detecting beta-thalassemia carriers using data collected over six months at IRCCS Ospedale San Raffaele. Given the prevalence of beta-thalassemia in regions with significant migratory flows, the study emphasizes the need for continuous epidemiological monitoring and appropriate genetic testing.
Methods: hemoglobin patterns were analyzed using capillary electrophoresis in 1684 patients and compared with complete blood counts and biochemical tests.
Results: the study revealed pathological hemoglobin patterns in 13% of cases. The aim was to determine the prevalence of various hemoglobinopathies, specifically beta-thalassemia and the beta-thalassemic trait.
Discussion and Conclusion: while non-molecular methods are cost-effective for initial screening, they require supplementation with detailed clinical assessments and molecular tests to improve diagnostic accuracy. This approach is crucial for regions with high prevalence and migratory influences, emphasizing the need for updated national health registries and standardized international screening practices.

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