Diagnostic challenges and the importance of genetic testing in α/β-thalassemia: a case report

Key Points

• To illustrate the diagnostic challenges faced in diagnosing α/β-thalassemia in infants and the role of genetic testing.
• Case study involving an infant with unexplained anemia
• Assessment of hemoglobin expression and capillary electrophoresis results
• Utilization of genetic testing for definitive diagnosis
• Capillary electrophoresis was nondiagnostic due to age-related hemoglobin expression
• Genetic testing confirmed the diagnosis of β-thalassemia
• Early molecular confirmation led to optimized clinical management

Abstract