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Science 2 March 1984:
Vol. 223. no. 4639, pp. 929 - 930
DOI: 10.1126/science.6198720
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Articles

Science, Vol 223, Issue 4639, 929-930
Copyright © 1984 by American Association for the Advancement of Science

articles

Multiple mutations produce delta beta 0 thalassemia in Sardinia

M Pirastu, YW Kan, R Galanello, and A Cao

In Sardinia the common form of beta thalassemia is a beta 0 thalassemia due to a nonsense mutation at codon 39. delta beta 0 Thalassemia is rare in Sardinia and is associated with increased production of hemoglobin F of the A gamma type. In this study we used a synthetic oligomer assay and detected the beta 39 nonsense mutation on the delta beta 0 thalassemia chromosome. Hence at least two different mutations have occurred on this chromosome; one that increases A gamma globin synthesis and another that silences the beta globin gene.


THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES:
Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of {beta}-thalassemia.
M. Uda, R. Galanello, S. Sanna, G. Lettre, V. G. Sankaran, W. Chen, G. Usala, F. Busonero, A. Maschio, G. Albai, et al. (2008)
PNAS 105, 1620-1625
   Abstract »    Full Text »    PDF »
Homozygosity for nondeletion delta -beta 0 thalassemia resulting in a silent clinical phenotype.
R. Galanello, S. Barella, S. Satta, L. Maccioni, C. Pintor, and A. Cao (2002)
Blood 100, 1913-1914
   Abstract »    Full Text »    PDF »


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