β-Thalassaemia Major in a Spanish Patient due to a Compound Heterozygosity for CD39 C→T−28 A→C

Abstract EN

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.