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.

• α-Thalassemia (α-thal)
• HBA1 Nondeletional mutation
• Genetics

ACKNOWLEDGMENTS

This study was supported by Research Grants from the Universidad de Buenos Aires B-425 and 20020100200073 (Ciudad de Buenos Aires, Argentina).

Declaration of Interest: The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.