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

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

FICHERA, Marco;
2006-01-01

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
File in questo prodotto:
File Dimensione Formato  
Hematologic and molecular characterization.pdf

solo gestori archivio

Tipologia: Versione Editoriale (PDF)
Licenza: NON PUBBLICO - Accesso privato/ristretto
Dimensione 163.15 kB
Formato Adobe PDF
163.15 kB Adobe PDF   Visualizza/Apri

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/20.500.11769/29571
Citazioni
  • ???jsp.display-item.citation.pmc??? ND
  • Scopus 9
  • ???jsp.display-item.citation.isi??? 7
social impact