We report a novel alpha2-globin gene allele with the mutation cod 117 TTC>TCC or alpha 117(GH5)Phe>Ser detected in three carriers with alpha-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 alpha-chain variant with the AHSP and prevents its stabilizing effect, thus leading to the alpha-chain pool reduction.
Hb Foggia or alpha 117(GH5)Phe -> Ser: a new alpha 2 globin allele affecting the alpha Hb-AHSP interaction
Lacerra G;Musollino G;
2008
Abstract
We report a novel alpha2-globin gene allele with the mutation cod 117 TTC>TCC or alpha 117(GH5)Phe>Ser detected in three carriers with alpha-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 alpha-chain variant with the AHSP and prevents its stabilizing effect, thus leading to the alpha-chain pool reduction.File in questo prodotto:
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