A Rare Alpha-Globin Mutation: Detailed Analysis of the Hb Rogliano Variant (α1 Cod 108 Thr→Asn)

Abstract excerpt

α-Thalassemia is an autosomal recessive disorder characterized by reduced synthesis of α-globin chains, most commonly due to deletions within the α-globin gene cluster. Non-deletional variants are less common and contribute to the molecular heterogeneity of the disease. Advances in long-read sequencing have improved the analysis of complex genomic regions, including highly homologous genes such as HBA1 and HBA2....

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