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

Authors :
Giuseppina Lacerra
Clelia Scarano
Gennaro Musollino
Angela Flagiello
Piero Pucci
Clementina Carestia
Source :
Haematologica, Vol 93, Iss 1 (2008)
Publication Year :
2008
Publisher :
Ferrata Storti Foundation, 2008.

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.

Details

Language :
English
ISSN :
03906078 and 15928721
Volume :
93
Issue :
1
Database :
Directory of Open Access Journals
Journal :
Haematologica
Publication Type :
Academic Journal
Accession number :
edsdoj.535ea9c5b5ea4cbeb4123a3553c64775
Document Type :
article
Full Text :
https://doi.org/10.3324/haematol.11789