Two beta-thalassaemia patients, whose constitutive genotype was beta(39C)/beta(39C-->T), had the clinical phenotype beta-thalassaemia intermedia. Analysis of leucocyte DNA showed the presence of the mutated beta(39C-->T)-gene exclusively, while the normal beta(39C)-gene was also present in reticulocyte RNA. Deletional analysis of chromosome 11p15.5 on leucocyte DNA showed large deletions including the beta-globin gene. Two populations of erythroid progenitors, one heterozygous and the other hemizygous for the beta(39C-->T) mutation, were demonstrated in one case. This confirms that, in heterozygous individuals, beta-thalassaemia intermedia may be caused by inactivation of the beta-locus in trans as a result of chromosome 11p15.5 deletions in a subpopulation of haematopoietic cells.

Somatic Deletion of the normal B-globin gene leading to thalassemia intermedia in heterozygous B-talassemic patients / Galanello, R; Perseu, L; Perra, C; Maccioni, L; Barella, S; Longinotti, Maurizio Roberto; Cao, A; Cazzola, M.. - In: BRITISH JOURNAL OF HAEMATOLOGY. - ISSN 0007-1048. - (2004).

Somatic Deletion of the normal B-globin gene leading to thalassemia intermedia in heterozygous B-talassemic patients

LONGINOTTI, Maurizio Roberto;
2004-01-01

Abstract

Two beta-thalassaemia patients, whose constitutive genotype was beta(39C)/beta(39C-->T), had the clinical phenotype beta-thalassaemia intermedia. Analysis of leucocyte DNA showed the presence of the mutated beta(39C-->T)-gene exclusively, while the normal beta(39C)-gene was also present in reticulocyte RNA. Deletional analysis of chromosome 11p15.5 on leucocyte DNA showed large deletions including the beta-globin gene. Two populations of erythroid progenitors, one heterozygous and the other hemizygous for the beta(39C-->T) mutation, were demonstrated in one case. This confirms that, in heterozygous individuals, beta-thalassaemia intermedia may be caused by inactivation of the beta-locus in trans as a result of chromosome 11p15.5 deletions in a subpopulation of haematopoietic cells.
Somatic Deletion of the normal B-globin gene leading to thalassemia intermedia in heterozygous B-talassemic patients / Galanello, R; Perseu, L; Perra, C; Maccioni, L; Barella, S; Longinotti, Maurizio Roberto; Cao, A; Cazzola, M.. - In: BRITISH JOURNAL OF HAEMATOLOGY. - ISSN 0007-1048. - (2004).
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11388/139483
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