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1.
A new high affinity variant Hb Aurillac (ß141Leu→Val).
Boursier, Guilaine; Trouillier, Sébastien; Blaizot, Muriel Giansily; Igual, Hélène; Schved, Jean-François; Martinez, Patricia Aguilar.
Hemoglobin ; 37(6): 584-8, 2013.
Article in English | MEDLINE | ID: mdl-23859762

ABSTRACT

Hemoglobin (Hb) variant ß141(H19)Leu→Val (HBB:c.424C>G), one of the two mutations defining Hb Kochi [the other one being ß144(HC1)Lys-Tyr-His→0 (HBB:c.433A>T)], was found as an isolated mutation. In contrast to what was suggested for Hb Kochi, the new variant was not clinically silent. It displayed increased oxygen affinity and was associated with mild erythrocytosis.


Subject(s)
Hemoglobins, Abnormal/genetics , Hemoglobins, Abnormal/metabolism , Mutation , beta-Globins/genetics , beta-Globins/metabolism , Adult , Amino Acid Substitution , Codon , DNA Mutational Analysis , Erythrocyte Indices , Exons , Humans , Male , Oxygen/metabolism , Protein Binding
2.
HAMP promoter mutation nc.-153C>T in non p.C282Y homozygous patients with iron overload.
Aguilar-Martinez, Patricia; Giansily-Blaizot, Muriel; Bismuth, Michael; Cunat, Séverine; Igual, Hélène; Schved, Jean François.
Haematologica ; 95(4): 687-8, 2010 Apr.
Article in English | MEDLINE | ID: mdl-20007134

Subject(s)
Antimicrobial Cationic Peptides/genetics , Iron Overload/genetics , Mutation/genetics , Promoter Regions, Genetic/genetics , Aged , Genotype , Hepcidins , Homozygote , Humans , Iron Overload/pathology , Male , Middle Aged , Response Elements
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