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

[摘要] A Spanish male patient withβ-thalassaemia major was studied. Compound heterozygosity was found for one of the most commonβ-globin gene mutations in the Spanish population (codon 39C→T) and for a mutation in the TATA box element of theβ-globin gene promoter (−28 A→Cmutation). To our knowledge this is the first report of a CD39C→Tand−28 A→Cchange association and the first report of the−28 A→Csubstitution in a Spanish patient.

[学科分类] 血液学