Hb Nivaria: A New Hemoglobin Variant with a Shortened α-Globin Chain [α139(HC1)Lys→Stop; HBA1: c.418A>T]. (2nd November 2022)

• Record Type: Journal Article
• Authors: Ropero Gradilla, Paloma; Raya, José María; González, Fernando Ataúlfo; Rochas, Sara; Ferrer-Benito, Sara; Nieto, Jorge M.; Martín-Santos, Taida; Barrios, Marcelo; Gutiérrez-Murillo, Lorena; Villegas, Ana; Benavente, Celina
• Is Part Of: Hemoglobin. Volume 46:Number 6(2022)
• Page Start: 344
• Page End: 346
• Publication Date: 2022-11-02
• Subjects: α-Globin chain -- hemoglobin (Hb) variant -- hemoglobinopathy; Hemoglobinopathy -- Periodicals; Hemoglobin -- Periodicals; Hematology -- Periodicals; Thalassemia -- Periodicals; Blood -- Diseases -- Periodicals; 612.1111
• DOI: 10.1080/03630269.2023.2172430
• Languages: English
• ISSNs: 0363-0269

Abstract

Abstract: We report a novel hemoglobin (Hb) variant found in a Spanish individual from Santa Cruz de Tenerife, the Canary Islands in Spain. The proband was a 39-year-old male. High performance liquid chromatography (HPLC) displayed an unknown peak (19.3%) at a retention time of 1.3 min. eluting before Hb A0 . Capillary zone electrophoresis (CZE) showed an abnormal peak (20.0%) in zone 12. Direct DNA sequencing of the α-globin genes revealed heterozygosity for a nonsense mutation at codon 139 ( A AA> T AA), causing a lysine to stop codon substitution [α139(HC1)Lys→Stop; HBA1 : c.418A>T]. We decided to name the variant Hb Nivaria (Tenerife) for the place of birth and residence of the proband.