Article
Promoter mutations producing mild beta-thalassaemia in the Italian population.
British journal of haematology - 1 Feb 1992
Meloni A, Rosatelli M C, Faà V, Sardu R, Saba L, Murru S, Sciarratta G V, Baldi M, Tannoia N, Vitucci A
Abstract excerpt
In this study we have investigated the molecular basis for a mild form of beta-thalassaemia in three patients of Italian descent. In two, belonging to different families and affected by a mild and late-presenting form of thalassaemia major, direct sequencing of amplified DNA detected a C----T substitution at position -87 of the beta-globin gene in the compound heterozygous state either with codon 39 nonsense...
Topics
- Adolescent
- Base Sequence
- Child, Preschool
- DNA
- Female
- Globins
- Humans
- Immunoblotting
- Male
- Middle Aged
- Molecular Sequence Data
- Mutation