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beta-Thalassaemia Major in a Spanish Patient due to a Compound Heterozygosity for CD39 C --> T/-28 A --> C

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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 ... ...