ArticleInternational journal of molecular sciences2025
Molecular Characterization of Three Novel Large Deletions Causing α
Article in International journal of molecular sciences, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Alpha-thalassemia is most often caused by large deletions within the α-globin gene cluster which reduce or abolish α-globin chain synthesis. Several common deletions are well described, but atypical structural variants remain underdiagnosed. In this study, we report three novel large heterozygous deletions of the α-globin cluster. The variants were identified in unrelated patients who presented with persistent microcytosis and hypochromia in the absence of iron deficiency or structural hemoglobin variants. A stepwise molecular diagnostic approach was applied. It combined commercial deletion screening assays, Sanger sequencing, Multiplex Ligation-dependent Probe Amplification (MLPA), and targeted Next-Generation Sequencing (NGS) with the Devyser Thalassemia panel. MLPA detected three deletions ranging from ~17 kb to ~360 kb. All involved the critical HS-40 regulatory region and both HBA1 and HBA2 structural genes, consistent with α
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