Article
The Molecular Spectrum of β- and α-Thalassemia Mutations in Non-Endemic Umbria, Central Italy.
Hemoglobin - 1 Nov 2016
Gorello Paolo, Arcioni Francesco, Palmieri Antonietta, Barbanera Ylenia, Ceccuzzi Laura, Adami Cecilia, Marchesi Mauro, Angius Antonella, Minelli Olivia, Onorato Marina, Piga Antonio, Caniglia Maurizio, Mecucci Cristina, Roetto Antonella
Abstract excerpt
The aim of this study was to describe the mutational spectrum of hemoglobinopathies during the period 1988-2015 in Umbria, Central Italy, which has never been considered endemic for these conditions. Twenty-four different β-globin gene mutations were identified in 188 patients and eight different α-globin gene mutations in 74 patients. Sixty percent β-thalassemia (β-thal), 85.0% sickle cell disease, 44.0% Hb S...
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