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

Autor:	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
Předmět:	HEMOGLOBIN polymorphisms CAPILLARY electrophoresis HIGH performance liquid chromatography BIRTHPLACES NONSENSE mutation
Zdroj:	Hemoglobin; Nov2022, Vol. 46 Issue 6, p344-346, 3p
Abstrakt:	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 (AAA>TAA), 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. [ABSTRACT FROM AUTHOR]
Databáze:	Complementary Index
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