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. (4th July 2022)

• Record Type: Journal Article
• Authors: Calcagno, Lara; Ciriello, Maria M.; Maccarini, Monica; Mogni, Massimo; Maffei, Massimo; Barberio, Giuseppina; Maoggi, Sauro; Coviello, Domenico; Ivaldi, Giovanni
• Is Part Of: Hemoglobin. Volume 46:Number 4(2022)
• Page Start: 240
• Page End: 244
• Publication Date: 2022-07-04
• Subjects: Capillary electrophoresis (CE) -- Hb A1c -- high oxygen affinity hemoglobin (Hb) variant -- new β-globin variant; Hemoglobinopathy -- Periodicals; Hemoglobin -- Periodicals; Hematology -- Periodicals; Thalassemia -- Periodicals; Blood -- Diseases -- Periodicals; 612.1111
• DOI: 10.1080/03630269.2022.2118605
• Languages: English
• ISSNs: 0363-0269

Abstract

Abstract: 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 A1c . 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 [β37(C3)Trp→Leu; HBB : c.113G>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.