Detailed hematologic and molecular analyses were carried out on a cohort of Sicilian individuals with suspected or asymptomatic α-thalassemia. Iron deficiency, mild β-thalassemia alleles and most common Mediterranean α-globin deletional mutations were excluded. All negative individuals were then tested for α-thalassemia point mutations by a denaturing high-performance liquid chromatography (DHPLC)-based assay. Four rare α-globin variants (Hb Interlaken, Hb Chesapeake, Hb Lombard, Hb Sun Prairie) and one point mutation (polyA: AATAAA-G in α2) were identified in 15 out of 80 carriers. Direct sequence analysis carried out in the remaining 65 negative individuals revealed no further sequence variants.
|Number of pages||2|
|Publication status||Published - Mar 2006|
- β-globin genes
- Non-deletional mutations
ASJC Scopus subject areas