Streamlining β-thalassaemia genotyping: a simple long-PCR third-generation sequencing approach

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.