Case reports novel variants HBA1 and HBD in a diabetic woman, suggesting diagnostic implications for management.
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.
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Rosetti et al. (2026) studied this question.
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