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

Valentina Guida, Alessia Colosimo, Marco Fichera, Turiddu Lombardo, Luciana Rigoli, Bruno Dallapiccola

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)409-410
Number of pages2
JournalHaematologica
Volume91
Issue number3
Publication statusPublished - Mar 2006

Keywords

  • α-thalassemia
  • β-globin genes
  • DHPLC
  • Non-deletional mutations

ASJC Scopus subject areas

  • Hematology

Fingerprint Dive into the research topics of 'Hematologic and molecular characterization of a Sicilian cohort of α thalassemia carriers'. Together they form a unique fingerprint.

Cite this