Hb Alessandria [β37(C3)Trp→Leu; HBB: c.113G>T]: a Novel Variant on the β-Globin Chain with Slightly Increased Affinity for Oxygen Detected by Capillary Electrophoresis

We report a novel mutation on the beta-globin gene in a 68-year-old woman of Sicilian origin living in Alessandria, Italy. This mutation produces a hemoglobin (Hb) variant of Hb A that was detected by the capillary electrophoresis (CE) method during measurement of Hb A(1c). The variant Hb did not separate from Hb A using different high performance liquid chromatography (HPLC) instruments. Direct DNA sequencing revealed a G>T transversion at codon 37 and subsequent substitution of a tryptophan residue for a leucine residue. The new Hb variant was named Hb Alessandria [beta 37(C3)Trp -> Leu; HBB: c.113G>T]. The p50 value was slightly decreased while the stability test at 37 degrees C in isopropyl alcohol and the main erythrocyte parameters were normal. Overall, the patient appeared clinically normal.

Automated summary

We report a novel mutation in the beta-globin gene of a Sicilian woman living in Italy, resulting in a hemoglobin variant. The mutation does not affect the patient's clinical presentation and erythrocyte parameters.