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

Adv Hematol. 2009:2009:476342. doi: 10.1155/2009/476342. Epub 2009 Jul 28.

Abstract

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.

Publication types

  • Case Reports