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.
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.