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Single‐Molecule Real‐Time Sequencing Reveals Hidden Diversity and Corrects Misdiagnosis in α‐Thalassemia

5 Aug 2026

Abstract excerpt

ABSTRACT Objectives Conventional methods for α‐thalassemia gene diagnosis, such as Gap‐PCR, are primarily designed for common deletions. However, their limitations in detecting complex rearrangements that maintain the total copy number of α‐globin genes can lead to misdiagnosis, as exemplified by the misinterpretation of “−α 3.7 heterozygous” carriers. This study aimed to evaluate the application of...

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PMID: 42554016
DOI: 10.1111/ijlh.70212

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