The study demonstrates effective genotyping of β-thalassaemia using long-PCR sequencing, suggesting improved prenatal diagnosis and variant detection.
Introduction: While phenotypic testing such as high-performance liquid chromatography is standard for detecting β-thalassaemia or haemoglobin variants, genotyping is essential for complex cases, rare variants, and prenatal diagnosis. This study evaluated a long PCR-based Oxford Nanopore Technologies (ONT) third-generation sequencing (TGS) approach for HBB genotyping.
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Lam et al. (2026) studied this question.
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