Hb Foggia or alpha 117(GH5)Phe -> Ser: a new alpha 2 globin allele affecting the alpha Hb-AHSP interaction.
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.
Lacerra
Giuseppina
G
Scarano
Clelia
C
Musollino
Gennaro
G
Flagiello
Angela
A
Pucci
Piero
P
Carestia
Clementina
C
D000293:Adolescent; D000368:Aged; D000483:Alleles; D001798:Blood Proteins / Q000235:genetics*; D005260:Female; D005914:Globins / Q000737:chemistry*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D018832:Molecular Chaperones / Q000235:genetics*; D009154:Mutation; D010649:Phenylalanine / Q000737:chemistry; D012694:Serine / Q000737:chemistry; D017085:alpha-Thalassemia / Q000235:genetics*
C468768:AHSP protein, human; D001798:Blood Proteins; D006455:Hemoglobins, Abnormal; D018832:Molecular Chaperones; D012694:Serine; D010649:Phenylalanine; D005914:Globins