Hb F-Sassari: A Novel G_γ Variant with a Threonine Residue at Position _γ75, Characterized by Mass Spectrometry Techniques

Abstract

The cord blood sample of a Caucasian newborn contained about 40% of an abnormal fetal hemoglobin. The mutated γ chain was isolated using reversed phase high performance liquid chromatography and characterized by means of electrospray and fast atom bombardment mass spectrometric techniques as a G_γ-globin variant with an Ile->Thr substitution at position -_γ75. The variant chain shows the same structure as the previously described Hb F-Charlotte that was demonstrated to be an A_γ variant with an Ile->Thr substitution at position _γ75 and an additional Ala->Gly substitution at _γ136.