Molecular, haematological and clinical studies of the -101 C --> T substitution of the beta-globin gene promoter in 25 beta-thalassaemia intermedia patients and 45 heterozygotes.

Abstract excerpt

We report the clinical, haematological, biosynthetic and molecular data of 25 double heterozygote beta-thalassaemia intermedia patients and 45 beta-thalassaemia heterozygotes with the C --> T substitution at nucleotide position -101 from the Cap site, in the distal CACCC box of the beta-globin ge...

Topics

• Adolescent
• Adult
• Amino Acid Substitution
• Child
• Female
• Globins
• Heterozygote
• Humans
• Male
• Mutation
• beta-Thalassemia