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.
journal_name
Haematologicajournal_title
Haematologicaauthors
Lacerra G,Scarano C,Musollino G,Flagiello A,Pucci P,Carestia Cdoi
10.3324/haematol.11789subject
Has Abstractpub_date
2008-01-01 00:00:00pages
141-2issue
1eissn
0390-6078issn
1592-8721pii
93/1/141journal_volume
93pub_type
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