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

Fetal and pediatric pathology - 1 Jan 2026

S Prabhan Shreshta, Bothra Meenakshi, Agarwal Sakshi, Kapoor Seema, Kumar Somesh

Abstract excerpt

BACKGROUND: β-thalassemia is a common monogenic disorder in India, yet early neonatal detection remains challenging due to high fetal hemoglobin levels. OBJECTIVE: To determine the prevalence of β-globin gene mutations in term neonates with HbA ≤15% and to identify an optimal HbA cutoff for screening. METHODS: In this cross-sectional study conducted from January 2020 to October 2021 at two tertiary hospitals in...

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PMID: 41620846
DOI: 10.1080/15513815.2025.2611095

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