ArticleAnnals of hematology2025
An unusual transfusion-dependent hemoglobin H disease caused by a novel complex inverted duplication involving the α-globin regulatory elements and α-thalassemia--SEA deletion.
Article in Annals of hematology, 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
Four multi-species conserved sequences (MCSs) are important enhancers which affect α-globin expression. Deletions of MCS can cause α-thalassemia. So far, duplication of MCS has never been reported to account for thalassemia. In this study, an unusual transfusion-dependent case of hemoglobin H disease was identified by whole-genome sequencing, optical genome mapping and longer PCR with special primers, which was caused by a familial 96,620-bp inverted duplication (from MCS-R1 to MCS-R4), inserted between chr16:199348 and 199349 (GRCh37/hg19) within MCSs. The duplication segment included an inverted repeat sequence from chr16:102712 to176193 and one direct repeat sequence from chr16:176208 to 199348. The associated α-thalassemia trait was confirmed to result from disrupted topological chromatin domains using ATAC-seq and the dual‑luciferase reporter assay system. This case presents a new mechanism of α-thalassemia, and may aid our understanding of the effects of enhancers on gene expression and the differential contribution of the four enhancer elements in the human a-globin locus.
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