Article
Hb A2-Pistoia [δ89(F5)Ser→Asn, HBD: c.269G>a]: a Novel Mutation on the δ-Globin Gene in an Italian Child.
Hemoglobin - 1 Sept 2020
Guastini Adriana, Rizzi Leonardo, Santoni Fabiano, Mogni Massimo, Maffei Massimo, Vinci Santina, Barberio Giuseppina, Coviello Domenico, Ivaldi Giovanni
Abstract excerpt
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...
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