Article
The effect of the beta thalassemia mutation on the clinical severity of the sickle beta thalassemia syndrome.
Haematologica - 1 Jan 2000
Perseu L, Ristaldi M S, Dibenedetto S P, Testa R, Schilirò G, Pirastu M, Cao A
Abstract excerpt
In this study, we have defined the beta thalassemia mutation and characterized the beta globin haplotype and the alpha globin gene arrangement in a group of patients of Sicilian descent with beta (s)/beta thalassemia. We found that those patients carrying a beta(+) thalassemia mutation associated with a moderate reduction of beta chain synthesis (beta(+) IVS-1 nt 6) have normal or reduced Hb levels and mild to...
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