An abnormal, fast moving hemoglobin was noted in a 34-yr-old male patient living in Legnano (northern Italy) affected with renal failure and iron deficiency anemia, not related to the presence of the Hb variant. Structural studies have demonstrated a previously undescribed amino acid substitution, α 141 Arg → Leu. This new variant has been named Hb Legnano, and is characterized by an increased oxygen affinity and a low cooperativity, at least as far as preliminary functional studies carried out on whole blood have indicated. Family studies are reported: three other heterozygous carriers were observed among the relatives of the propositus, all showing a mild polycythemia which, however, does not seem to produce appreciable clinical consequen...
Hb variants are structurally abnormal haemoglobins which can originate a wide range of phenotypes fr...
Hb Okazaki [β93(F8)Cys-Arg], was first described in 1984 as unstable hemoglobin variant having high ...
The hemoglobin (Hb) tetramer exists in equilibrium between two quaternary conformations R and T and ...
An abnormal, fast moving hemoglobin was noted in a 34-yr-old male patient living in Legnano (norther...
An abnormal human hemoglobin was found in association with β-thalassemia in a hemolysate from an 11-...
An abnormal human hemoglobin was found in a hemolysate from a 5-year-old healthy child living in Pra...
An α-chain variant hemoglobin was found in the hemolysate of a 21-year-old healthy male living in Ba...
During a screening program for the identification of β-thalassemia (β-thal) carriers in Sardinia, It...
Hb J Calabria is a fast moving hemoglobin variant which was found in an Italian family by Vecchio et...
A high oxygen affinity hemoglobin (Hb) variant, Hb J-Cape Town [α92(FG4)Arg→Gln (α1), CGG→CAG] was i...
This study describes a new molecular condition in the α2- globin gene (HBA2) found in six unrelated ...
AbstractA new β-variant has been detected and structurally defined in a French male, with a life-lon...
During a survey for abnormal hemoglobins in Polesine (a region north of the Po river, where betathal...
International audienceHb Dompierre [β29(B11)Gly→Arg, HBB: c.88G>C] is a rare β-globin gene variant t...
Hb Cardarelli [β86(F2)Ala → Pro] is a new unstable and high oxygen affinity variant found in several...
Hb variants are structurally abnormal haemoglobins which can originate a wide range of phenotypes fr...
Hb Okazaki [β93(F8)Cys-Arg], was first described in 1984 as unstable hemoglobin variant having high ...
The hemoglobin (Hb) tetramer exists in equilibrium between two quaternary conformations R and T and ...
An abnormal, fast moving hemoglobin was noted in a 34-yr-old male patient living in Legnano (norther...
An abnormal human hemoglobin was found in association with β-thalassemia in a hemolysate from an 11-...
An abnormal human hemoglobin was found in a hemolysate from a 5-year-old healthy child living in Pra...
An α-chain variant hemoglobin was found in the hemolysate of a 21-year-old healthy male living in Ba...
During a screening program for the identification of β-thalassemia (β-thal) carriers in Sardinia, It...
Hb J Calabria is a fast moving hemoglobin variant which was found in an Italian family by Vecchio et...
A high oxygen affinity hemoglobin (Hb) variant, Hb J-Cape Town [α92(FG4)Arg→Gln (α1), CGG→CAG] was i...
This study describes a new molecular condition in the α2- globin gene (HBA2) found in six unrelated ...
AbstractA new β-variant has been detected and structurally defined in a French male, with a life-lon...
During a survey for abnormal hemoglobins in Polesine (a region north of the Po river, where betathal...
International audienceHb Dompierre [β29(B11)Gly→Arg, HBB: c.88G>C] is a rare β-globin gene variant t...
Hb Cardarelli [β86(F2)Ala → Pro] is a new unstable and high oxygen affinity variant found in several...
Hb variants are structurally abnormal haemoglobins which can originate a wide range of phenotypes fr...
Hb Okazaki [β93(F8)Cys-Arg], was first described in 1984 as unstable hemoglobin variant having high ...
The hemoglobin (Hb) tetramer exists in equilibrium between two quaternary conformations R and T and ...