Details

Autor(en) / Beteiligte

• Calcagno, Lara
• Ciriello, Maria M.
• Maccarini, Monica
• Mogni, Massimo
• Maffei, Massimo
• Barberio, Giuseppina
• Maoggi, Sauro
• Coviello, Domenico
• Ivaldi, Giovanni

Titel

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

Ist Teil von

• Hemoglobin, 2022-07, Vol.46 (4), p.240-244

Ort / Verlag

Taylor & Francis

Erscheinungsjahr

2022

Beschreibungen/Notizen

• 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>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.