Somatic deletion of the normal beta-globin gene leading to thalassaemia intermedia in heterozygous beta-thalassaemic patients.

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. -->
Substance Nomenclature: 0 (RNA, Messenger)
9004-22-2 (Globins)
9034-51-9 (Hemoglobin A)
9034-53-1 (Hemoglobin A2)
9034-63-3 (Fetal Hemoglobin)
Entry Date(s): Date Created: 20041130 Date Completed: 20050119 Latest Revision: 20061115
Update Code: 20231215
DOI: 10.1111/j.1365-2141.2004.05237.x
PMID: 15566365
Autor: Galanello R; Dipartimento di Scienze Biomediche e Biotecnologie, Ospedale Microcitemico, University of Cagliari, 09121 Cagliari, Italy. renzo.galanello@mcweb.unica.it, Perseu L, Perra C, Maccioni L, Barella S, Longinotti M, Cao A, Cazzola M
Jazyk: angličtina
Zdroj: British journal of haematology [Br J Haematol] 2004 Dec; Vol. 127 (5), pp. 604-6.
DOI: 10.1111/j.1365-2141.2004.05237.x
Abstrakt: 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.
Databáze: MEDLINE
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