Hb A₂-Pistoia [δ89(F5)Ser→Asn, HBD: c.269G>a]: a Novel Mutation on the δ-Globin Gene in an Italian Child

Abstract

We describe a new hemoglobin (Hb) variant, found in a 6-year-old Italian male living in Pistoia, Italy. An abnormal pattern compatible with a Hb A₂ variant was observed on capillary electrophoresis (CE); direct sequencing revealed a transition at codon 89 of the δ gene (HBD: c.269G>A) changing serine into asparagine. The variant was also identified as Hb A₂-Pistoia according to the traditional nomenclature and no other globin defect was present. The observation and description of this Hb A₂ variant contributes to the number and heterogeneity of mutations of the δ-globin gene in the Mediterranean Area.

Keywords:

• δ-globin variant
• Hb A₂ variant
• hemoglobinopathy

Disclosure statement

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

Additional information

Funding

Santina Vinci, product specialist, received support from Sebia-Italia S.r.l., Bagno a Ripoli, Firenze, Italia.