beta-Thalassaemia Major in a Spanish Patient due to a Compound Heterozygosity for CD39 C --> T/-28 A --> C.
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.
Gamarra
Soledad
S
Laboratorio de Biología Molecular, Servicio de Hematología, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain.
Garcia-Effron
Guillermo
G
Monteserin
Carmen
C
Lopez-Villar
Isabel
I
Gilsanz
Florinda
F
Martinez-Lopez
Joaquín
J