AbstractDetailed 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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Vol. 91 No. 3 (2006): March, 2006 : Comparative Studies
Ferrata Storti Foundation, Pavia, Italy
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