Article
Diminished A gamma T fetal globin levels in Sardinian haplotype II beta 0-thalassaemia patients are associated with a four base pair deletion in the A gamma T promoter.
British journal of haematology - 1 May 1991
Manca L, Cocco E, Gallisai D, Masala B, Gilman J G
Abstract excerpt
In Sardinia, the beta-39 nonsense mutation is the primary cause of beta 0-thalassaemia. This mutation is found mainly on beta-globin gene cluster haplotypes I and II, which differ in their A gamma globin types (A gamma I and A gamma T, respectively). This report presents data on G gamma, A gamma I and A gamma T levels, and the presence or absence of a 4 base pair (bp) deletion at -225 to -222 of the A gamma...
Topics
- Base Sequence
- Chromosome Deletion
- DNA
- Fetal Hemoglobin
- Globins
- Haplotypes
- Humans
- Italy
- Molecular Sequence Data
- Mutation
- Promoter Regions, Genetic
