Hb Taradale [β82(EF6)Lys→Arg]: A Novel Mutation at a 2,3-Diphosphoglycerate Binding Site

Abstract

Hb Taradale [β82(EF6)Lys→Arg] was initially detected as a split Hb A₀ peak on Hb A_1c monitoring. Red cell parameters, hemoglobin (Hb) electrophoresis and stability tests were normal. Mass spectrometry (ms) clearly identified a variant β chain with a mass increase of 28 Da and peptide mapping located the mutation site to peptide βT-9. DNA sequencing confirmed the presence of a novel β82(EF6)Lys→Arg mutation. This conservative substitution at a 2,3-diphosphoglycerate (2,3-DPG) binding site did not, however, appear to affect the P₅₀ for oxygen binding.

• Hemoglobin (Hb) mutation
• Mass spectrometry (MS)
• 2,3-Diphosphoglycerate (2,3-DPG)