Hb F-Avellino [^Gγ41(C7)Phe → Leu; HBG2: c.124 T > C]: A New Hemoglobin Variant Observed In A Healthy Newborn

Abstract

Here we describe Hb F-Avellino [^Gγ41(C7)Phe → Leu; HBG2: c.124 T > C], a new hemoglobin (Hb) variant observed in a healthy newborn. The proband’s hemolysate was found to be mildly unstable by the isopropanol test. The occurrence of the variant was assessed by both chromatographic and electrophoretic methods. DNA sequencing analysis of the ^Gγ gene showed a T to C transition at codon 41 (TTC > CTC) corresponding to the Phe → Leu substitution. Normal functional properties have been hypothesized.

• Hemoglobin (Hb) variant
• Hb F-Avellino
• Phe41(C7) residue
• ^Gγ-globin gene

Declaration of interest

This study was supported by grants from Fondazione Banco di Sardegna, Sassari, Italia. The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.