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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.

advances in hematology

<mml:math xmlns:mml="http://www.w3.org/1998/Math/MathML"><mml:mi>β</mml:mi></mml:math>-Thalassaemia Major in a Spanish Patient due to a Compound Heterozygosity for CD39<mml:math xmlns:mml="http://www.w3.org/1998/Math/MathML"><mml:mtext>C</mml:mtext><mml:mo>→</mml:mo><mml:mtext>T</mml:mtext></mml:math>/−28<mml:math xmlns:mml="http://www.w3.org/1998/Math/MathML"><mml:mtext>A</mml:mtext><mml:mo>→</mml:mo><mml:mtext>C</mml:mtext></mml:math>

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