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.
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Two β-thalassaemia patients, whose constitutive genotype was β39C/β39C→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.
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