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We report a novel mutation on the β-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&gt;T transversion at codon 37 and subsequent substitution of a tryptophan residue for a leucine residue. The new Hb variant was named Hb Alessandria [β37(C3)Trp→Leu;  HBB : c.113G&gt;T]. The p50 value was slightly decreased while the stability test at 37 °C in isopropyl alcohol and the main erythrocyte parameters were normal. Overall, the patient appeared clinically normal.

hemoglobin

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