Article
Alpha-thalassemia resulting from deletion of regulatory sequences far upstream of the alpha-globin structural genes.
Blood - 15 Sept 1991
Romao L, Osorio-Almeida L, Higgs D R, Lavinha J, Liebhaber S A
Abstract excerpt
We describe an alpha-thalassemia determinant in which alpha-globin expression is silenced by a deletion located 27 kb 5' to the transcription start site of the alpha 2-globin gene. This alpha-thalassemic determinant, (alpha alpha)MM, is a member of a newly described group of thalassemic mutations resulting from deletion of locus-controlling sequences critical to globin gene expression.
Topics
- Amino Acid Sequence
- Blotting, Southern
- Child
- Chromosome Deletion
- Chromosome Mapping
- Female
- Genes
- Genotype
- Globins
- Humans
- Molecular Sequence Data
- Operator Regions, Genetic