Hb Nivaria: A New Hemoglobin Variant with a Shortened a-Globin Chain [a139(HC1)LysfiStop; HBA1: c.418A > T]

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 A(0). Capillary zone electrophoresis (CZE) showed an abnormal peak (20.0%) in zone 12. Direct DNA sequencing of the alpha-globin genes revealed heterozygosity for a nonsense mutation at codon 139 (AAA > TAA), causing a lysine to stop codon substitution [alpha 139(HC1)Lys & RARR;Stop; HBA1: c.418A > T]. We decided to name the variant Hb Nivaria (Tenerife) for the place of birth and residence of the proband.