<div><p>We identified two new variants in the third exon of the α-globin gene in families from southern Italy: the Hb Rogliano, α1 cod108 ACC>AAC or α1[α108(G15)Thr→Asn] and the Hb Policoro, α2 cod124 TCC>CCC or α2[α124(H7)Ser→Pro]. The carriers showed mild α-thalassemia phenotype and abnormal hemoglobin stability features. These mutations occurred in the G and H helices of the α-globin both involved in the specific recognition of AHSP and β1 chain. Molecular characterization of mRNA, globin chain analyses and molecular modelling studies were carried out to highlight the mechanisms causing the α-thalassemia phenotype. The results demonstrated that the α-thalassemia defect associated with the two Hb variants originated by different defects. ...
International audienceThe human α-globin genes are paralogues, sharing a high degree of DNA sequence...
Hb H Disease is caused by the loss or inactivation of three of the four functional α-globin genes. P...
The abnormal Hb F-Porto Torres [Aγ75(E19)Ile→Thr, 136(H14)Ala→Ser] was observed during a cord blood ...
We identified two new variants in the third exon of the α-globin gene in families from southern Ital...
We identified two new variants in the third exon of the α-globin gene in families from south-ern Ita...
During a screening program for the identification of β-thalassemia (β-thal) carriers in Sardinia, It...
Hemoglobin (Hb) is a protein responsible for oxygen transportation from lungs to the entire body. It...
Hb Taybe [α38(C3) or α39(C4) Thr→0 (α1)] is an unstable hemoglobin (Hb) variant caused by a deletion...
This study describes a new molecular condition in the α2- globin gene (HBA2) found in six unrelated ...
The β-thalassaemias are a heterogeneous group of inherited disorders of haemoglobin synthesis, all c...
This study provides the first experimental evidence that a single nucleotide mutation within the cod...
We report a novel α2-globin gene allele with the mutation cod 117 TTC>TCC or α117(GH5)Phe>Ser detect...
Hb Cardarelli [β86(F2)Ala → Pro] is a new unstable and high oxygen affinity variant found in several...
An abnormal human hemoglobin was found in association with β-thalassemia in a hemolysate from an 11-...
The human α-globin genes are paralogues, sharing a high degree of DNA sequence similarity and produc...
International audienceThe human α-globin genes are paralogues, sharing a high degree of DNA sequence...
Hb H Disease is caused by the loss or inactivation of three of the four functional α-globin genes. P...
The abnormal Hb F-Porto Torres [Aγ75(E19)Ile→Thr, 136(H14)Ala→Ser] was observed during a cord blood ...
We identified two new variants in the third exon of the α-globin gene in families from southern Ital...
We identified two new variants in the third exon of the α-globin gene in families from south-ern Ita...
During a screening program for the identification of β-thalassemia (β-thal) carriers in Sardinia, It...
Hemoglobin (Hb) is a protein responsible for oxygen transportation from lungs to the entire body. It...
Hb Taybe [α38(C3) or α39(C4) Thr→0 (α1)] is an unstable hemoglobin (Hb) variant caused by a deletion...
This study describes a new molecular condition in the α2- globin gene (HBA2) found in six unrelated ...
The β-thalassaemias are a heterogeneous group of inherited disorders of haemoglobin synthesis, all c...
This study provides the first experimental evidence that a single nucleotide mutation within the cod...
We report a novel α2-globin gene allele with the mutation cod 117 TTC>TCC or α117(GH5)Phe>Ser detect...
Hb Cardarelli [β86(F2)Ala → Pro] is a new unstable and high oxygen affinity variant found in several...
An abnormal human hemoglobin was found in association with β-thalassemia in a hemolysate from an 11-...
The human α-globin genes are paralogues, sharing a high degree of DNA sequence similarity and produc...
International audienceThe human α-globin genes are paralogues, sharing a high degree of DNA sequence...
Hb H Disease is caused by the loss or inactivation of three of the four functional α-globin genes. P...
The abnormal Hb F-Porto Torres [Aγ75(E19)Ile→Thr, 136(H14)Ala→Ser] was observed during a cord blood ...