A Novel α-Globin Gene Variant: Hb Romagna [α61(E10)Lys>Gln; HBA1:c.184A>C] Co-Inherited with Hb A2-Lampang [δ47(CD6)Asp>Asn; HBD:c.142G>A] in an Italian Diabetic Woman

Background: Screening for hemoglobinopathies, particularly in Mediterranean countries, is primarily aimed at preventing beta-thalassemia. However, during such screening, numerous other Hb defects can be diagnosed, each with different clinical significance, including qualitative and quantitative variations in the alpha genes. Aims: In the present study, we describe a new variant of the HBA1 gene co-inherited with a previously described variant of the HBD gene in a diabetic patient tested for HbA1c. Methods: HbA1c and Hb fraction separation were performed using capillary electrophoresis (CE), and the Hb components were confirmed by high-performance liquid chromatography (HPLC). Molecular analysis was performed using next-generation sequencing (NGS). Results: The results of capillary electrophoresis and HPLC tests showed the presence of two anomalous peaks. The molecular study revealed the presence of a new variant of the HBA1 gene, which was named Hb Romagna, and a co-inherited variant of the HBD gene already known as Hb A2-Lampang. Discussion: The coexistence of the two variants poses certain diagnostic challenges with clinical implications that could be relevant to patient management.