TY - JOUR
T1 - Somatic deletion of the normal β-globin gene leading to othalassaemia intermedia in heterozygous β-thalassaemic patients
AU - Galanello, Renzo
AU - Perseu, Lucia
AU - Perra, Chiara
AU - Maccioni, Liliana
AU - Barella, Susanna
AU - Longinotti, Maurizio
AU - Cao, Antonio
AU - Cazzola, Mario
PY - 2004/12
Y1 - 2004/12
N2 - 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.
AB - 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.
KW - Beta globin
KW - Chromosome 11
KW - Deletion
KW - Somatic mutation
KW - Thalassaemia intermedia
UR - http://www.scopus.com/inward/record.url?scp=10344260638&partnerID=8YFLogxK
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U2 - 10.1111/j.1365-2141.2004.05237.x
DO - 10.1111/j.1365-2141.2004.05237.x
M3 - Article
C2 - 15566365
AN - SCOPUS:10344260638
VL - 127
SP - 604
EP - 606
JO - British Journal of Haematology
JF - British Journal of Haematology
SN - 0007-1048
IS - 5
ER -