Haematologica
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Haematologica, Vol 91, Issue 3, 409-410
Copyright © 2006 by Ferrata Storti Foundation

Comparative Study

Hematologic and molecular characterization of a Sicilian cohort of alpha thalassemia carriers

V Guida, A Colosimo, M Fichera, T Lombardo, L Rigoli, and B Dallapiccola

Detailed hematologic and molecular analyses were carried out on a cohort of Sicilian individuals with suspected or asymptomatic beta-thalassemia. Iron deficiency, mild beta-thalassemia alleles and most common Mediterranean alpha-globin deletional mutations were excluded. All negative individuals were then tested for alpha-thalassemia point mutations by a denaturing high-performance liquid chromatography (DHPLC)-based assay. Four rare alpha-globin variants (Hb Interlaken, Hb Chesapeake, Hb Lombard, Hb Sun Prairie) and one point mutation (polyA: AATAAA-G in alpha2) were identified in 15 out of 80 carriers. Direct sequence analysis carried out in the remaining 65 negative individuals revealed no further sequence variants.




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Copyright © 2006 by the Ferrata Storti Foundation.