Abstract

Two β-thalassaemia patients, whose constitutive genotype was β^39C/β^39C→T, had the clinical phenotype β-thalassaemia intermedia. Analysis of leucocyte DNA showed the presence of the mutated β^39C→T-gene exclusively, while the normal β^39C-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 β^39C→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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