This case illustrates how age-related hemoglobin expression and the masking effect of α-thalassemia can render capillary electrophoresis nondiagnostic in infants with β-thalassemia. Genetic testing provided definitive diagnosis and underscores its critical role in diagnosing infants with unexplained or disproportionate anemia. Early molecular confirmation enables accurate diagnosis, appropriate counseling, and optimized clinical management.
Hoque et al. (Wed,) studied this question.