Detection of β-Thalassemia Mutations in Term Neonates with HbA ≤15% Using Capillary Electrophoresis and Molecular...

β-thalassemia is a common monogenic disorder in India, yet early neonatal detection remains challenging due to high fetal hemoglobin levels.

To determine the prevalence of β-globin gene mutations in term neonates with HbA ≤15% and to identify an optimal HbA cutoff for screening.

In this cross-sectional study conducted from January 2020 to October 2021 at two tertiary hospitals in Delhi, 2,600 newborns were screened using capillary electrophoresis. Neonates with HbA ≤15% underwent parental screening by HPLC, and genetic confirmation was performed using ARMS-PCR and sequencing.

Among 91 neonates with parental consent, 14 (15.4%) harbored β-globin gene mutations, predominantly IVS 1-5(G→C). ROC analysis revealed an optimal HbA cutoff of ≤12.4%, with 93% sensitivity and 56% specificity.

HbA ≤12.4% at birth is a useful threshold for early identification of β-thalassemia, enabling timely counseling and prevention strategies through neonatal screening.