TY - JOUR AU - V Guida, AU - A Colosimo, AU - M Fichera, AU - T Lombardo, AU - L Rigoli, AU - B Dallapiccola, PY - 2006/03/01 Y2 - 2024/03/28 TI - Hematologic and molecular characterization of a Sicilian cohort of alpha thalassemia carriers JF - Haematologica JA - haematol VL - 91 IS - 3 SE - Comparative Studies DO - 10.3324/%x UR - https://haematologica.org/article/view/3898 SP - 409-410 AB - 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. ER -