A new unstable variant of the fetal hemoglobin HBG2 gene: Hb F-Turritana [Gγ64(E8)Gly->Asp, HBG2:c.194G>A] found in cis to the Hb F-Sardinia gene [Aγ(E19)Ile->Thr, HBG1: c.227T>C]

A new variant of the fetal hemoglobin (Hb) was observed in a newborn baby subjected to phototherapy
due to jaundice, by means of electrophoretic and chromatographic techniques. The variant Hb resulted
unstable by the isopropanol stability test. After HBG2 gene sequencing, the G to A transversion at codon
64, position eight of the E helix, was found, which corresponds to the Asp for Gly amino acid substitution.
The new variant was called Hb F-Turritana [Gc64(E8)Gly->Asp, HBG2:c.194G>A]. Incoming aspartic acid
residue, bulky and negatively charged, may be responsible for alteration of the heme pocket steric
configuration and for instability. The new abnormal HBG2 gene was found to be associated in cis with the
mutated HBG1 gene, which characterizes the Hb F-Sardinia [Ac (E19)Ile->Thr, HBG1:c.227T>C] variant.