Article
Analysis of delta-globin gene alleles in the Sicilian population: identification of five new mutations.
Haematologica - 1 Dec 2006
Giambona Antonino, Passarello Cristina, Ruggeri Gaetano, Renda Disma, Teresi Pietro, Anzà Maurizio, Maggio Aurelio
Abstract excerpt
Although delta-globin gene (HBD MIM#142000) mutations have no clinical implications, co-inheritance of beta- and delta-thalassemia may lead to misdiagnosis. Among 7,153 samples studied for beta-thalassemia, 205 samples with lower than expected HbA2 levels were selected for our analysis and 183 samples (2.5%) were positive for delta-globin gene mutations. Twelve different mutations were detected, and among these...
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