Article
α-Thalassemia associated with hb instability: a tale of two features. the case of Hb Rogliano or α1 Cod 108(G15)Thr→Asn and Hb Policoro or α2 Cod 124(H7)Ser→Pro.
PloS one - 1 Jan 2015
Bisconte Maria Grazia, Caldora Mercedes, Musollino Gennaro, Cardiero Giovanna, Flagiello Angela, La Porta Gaetana, Lagona Laura, Prezioso Romeo, Qualtieri Gabriele, Gaudiano Carlo, Medulla Emilia, Merlino Antonello, Pucci Piero, Lacerra Giuseppina
Abstract excerpt
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...
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