β-Thalassaemia Major in a Spanish Patient due to a Compound Heterozygosity for CD39C→T/−28A→C

A Spanish male patient with β -thalassaemia major was studied. Compound heterozygosity was found for one of the most common β -globin gene mutations in the Spanish population (codon 39 C → T) and for a mutation in the TATA box element of the β -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.