Modernizing Thalassemia Detection: Insights from Third Generation Sequencing

Abstract: Thalassemia, an inherited hematologic disorder, places a considerable societal and economic burden. Efficient prevention and management of this ailment necessitates the implementation of comprehensive screening strategies. Third–generation sequencing (TGS), an innovating technology, shows significant potential for applications in screening and diagnosis across numerous disorders. Although its utilization in the detection of thalassemia is in early phases, the current review explore recent and extensive applications, benefits of TGS, and associated problems and resolutions in incorporating it into routing screening and diagnostic procedures of thalassemia. In essence, TGS has displayed heightened degrees of progressive detection analysis and diagnostic precision in comparison to traditional methodologies and NGS. This observation suggests that technologies of TGS stands as a reasonable choice for diagnostic laboratories conducing the testing of thalassemia. The integration of TGS in diagnosis of thalassemia is anticipated to simplify the formulation of operational prevention and therapeutic approaches, ultimately mitigating impact of thalassemia on individuals and community. Keywords: Thalassemia, Diagnosis, Third generation sequencing, Screening disorder, Full blood count, Red blood cell morphology.