| Autor: |
Galanello, Renzo, Perseu, Lucia, Perra, Chiara, Maccioni, Liliana, Barella, Susanna, Longinotti, Maurizio, Cao, Antonio, Cazzola, Mario |
| Předmět: |
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| Zdroj: |
British Journal of Haematology; Dec2004, Vol. 127 Issue 5, p604-606, 3p |
| Abstrakt: |
Twoβ-thalassaemia patients, whose constitutive genotype wasβ39C/β39C→T, had the clinical phenotypeβ-thalassaemia intermedia. Analysis of leucocyte DNA showed the presence of the mutatedβ39C→T-gene exclusively, while the normalβ39C-gene was also present in reticulocyte RNA. Deletional analysis of chromosome 11p15.5 on leucocyte DNA showed large deletions including theβ-globin gene. Two populations of erythroid progenitors, one heterozygous and the other hemizygous for theβ39C→T mutation, were demonstrated in one case. This confirms that, in heterozygous individuals,β-thalassaemia intermedia may be caused by inactivation of theβ-locus intransas a result of chromosome 11p15.5 deletions in a subpopulation of haematopoietic cells. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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