Hb Foggia or 117(GH5)Phe -> Ser : a new 2 globin allele affecting the Hb-AHSP interaction
2007; Ferrata Storti Foundation; Volume: 93; Issue: 1 Linguagem: Inglês
10.3324/haematol.11789
ISSN1592-8721
AutoresGiuseppina Lacerra, Christian Scarano, Gennaro Musollino, Angela Flagiello, Piero Pucci, Clementina Carestia,
Tópico(s)Erythrocyte Function and Pathophysiology
ResumoWe 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.
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