Identification of a new HBA1 gene mutation (HBA1:c.301-2A>T) in cis with Hb riccarton (HBA1:c.154G>A) [α51(CE9)Gly→Ser]

Abstract

We report two point mutations found in a heterozygous state on the HBA1 gene of an 88-year-old Argentinean patient with an α+- thalassemia (α+-thal) phenotype: Hb Riccarton HBA1:c.154G>A) [α51(CE9)Gly→Ser] and a novel mutation, HBA1:c.301-2A>T that affects the splicing acceptor site of the second intron and leads to a non functional α-globin chain. Cloning of the HBA1 PCR (polymerase chain reaction) product and direct sequencing of the clones revealed that both mutations were in cis.