Hb Foggia or α117(GH5)Phe→Ser: A new α2 globin allele affecting the αHb-AHSP interaction

Abstract

We report a novel α2-globin gene allele with the mutation cod 117 TTC>TCC or α117(GH5)Phe>Ser detected in three carriers with α-thalassemia phenotype. The mutated mRNA was present in the reticulocytes in the same amount as the normal one, but no chain or hemoglobin variant were detected. Most likely the amino acid substitution impairs the interaction of the α-chain variant with the AHSP and prevents its stabilizing effect, thus leading to the α-chain pool reduction.