UnissResearch

Logo Universitàegli studi di Sassari
titoli, abstracts, parole chiave >>>
Somatic deletion of the normal beta-globin gene leading to thalassaemia intermedia in heterozygous beta-thalassaemic patients

Galanello, Renzo and Perseu, Lucia and Perra, Chiara and Maccioni, Liliana and Barella, Susanna and Longinotti, Maurizio Roberto and Cao, Antonio and Cazzola, Mario (2004) Somatic deletion of the normal beta-globin gene leading to thalassaemia intermedia in heterozygous beta-thalassaemic patients. British Journal of Haematology, Vol. 127 (5), p. 604-606. eISSN 1365-2141. Article.

Full text not available from this repository.

DOI: 10.1111/j.1365-2141.2004.05237.x

Abstract

Two β-thalassaemia patients, whose constitutive genotype was β39C39C→T, had the clinical phenotype β-thalassaemia intermedia. Analysis of leucocyte DNA showed the presence of the mutated β39C→T-gene exclusively, while the normal β39C-gene was also present in reticulocyte RNA. Deletional analysis of chromosome 11p15.5 on leucocyte DNA showed large deletions including the β-globin gene. Two populations of erythroid progenitors, one heterozygous and the other hemizygous for the β39C→T mutation, were demonstrated in one case. This confirms that, in heterozygous individuals, β-thalassaemia intermedia may be caused by inactivation of the β-locus in trans as a result of chromosome 11p15.5 deletions in a subpopulation of haematopoietic cells.

Item Type:Article
ID Code:2520
Status:Published
Refereed:Yes
Uncontrolled Keywords:Thalassaemia intermedia, chromosome 11, beta globin, somatic mutation, deletion
Subjects:Area 06 - Scienze mediche > MED/15 Malattie del sangue
Divisions:001 Università di Sassari > 03 Istituti > Ematologia
Publisher:Blackwell / Wiley
eISSN:1365-2141
Copyright Holders:© 2004 Blackwell
Deposited On:18 Aug 2009 10:07

I documenti depositati in UnissResearch sono protetti dalle leggi che regolano il diritto d'autore

Repository Staff Only: item control page