Beta-Thalassaemia Major in a Spanish Patient due to a Compound Heterozygosity for CD39 C --> T/-28 A --> C.
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ABSTRACT:
SUBMITTER: Gamarra S
PROVIDER: S-EPMC2778560 | biostudies-literature | 2009
REPOSITORIES: biostudies-literature
Publications
beta-Thalassaemia Major in a Spanish Patient due to a Compound Heterozygosity for CD39 C --> T/-28 A --> C.
Gamarra Soledad S Garcia-Effron Guillermo G Monteserin Carmen C Lopez-Villar Isabel I Gilsanz Florinda F Martinez-Lopez Joaquín J
Advances in hematology 20090728
A Spanish male patient with beta-thalassaemia major was studied. Compound heterozygosity was found for one of the most common beta-globin gene mutations in the Spanish population (codon 39 C --> T) and for a mutation in the TATA box element of the beta-globin gene promoter (-28 A --> C mutation). To our knowledge this is the first report of a CD39 C --> T and -28 A --> C change association and the first report of the -28 A --> C substitution in a Spanish patient. ...[more]
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