Meeting modern demands: How NGS can help overcome thalassemia testing challenges

Thalassemia is a common inherited blood disorder affecting nearly 300,000 people annually worldwide. While prevention programs have reduced the incidence in endemic regions, migration has led to new diagnostic challenges in non-endemic areas. The discovery of more variants makes it challenging for clinicians and laboratories to diagnose and manage appropriately. This whitepaper details how next-generation sequencing can help overcome these challenges and provide fast and accurate thalassemia diagnosis.