Application of targeted sequencing improves thalassemia diagnosis in individuals with microcytic hypochromic anemia, indicating more accurate testing methods.
γδβ)⁰), found in 20 and 7 cases, respectively. Additionally, a novel heterozygous variant of the HBA2 gene was identified: NM_000517.6:c.16delG. NGS demonstrates superior detection efficacy and higher detection rates in individuals with low mean corpuscular volume, particularly in those with severe microcytic hypochromic anemia. It effectively identifies rare mutations and reduces the misdiagnosis rate of thalassemia.
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Cao et al. (2026) studied this question.
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