Article
Identification and molecular characterization of four new large deletions in the beta-globin gene cluster.
Blood cells, molecules & diseases - 1 Jan 2000
Joly Philippe, Lacan Philippe, Garcia Caroline, Couprie Nicole, Francina Alain
Abstract excerpt
Despite the fact that mutations in the human beta-globin gene cluster are essentially point mutations, a significant number of large deletions have also been described. We present here four new large deletions in the beta-globin gene cluster that have been identified on patients displaying an atypical hemoglobin phenotype (high HbF) at routine analysis. The first deletion, which spreads over 2.0 kb, removes the...
Topics
- Adult
- Base Sequence
- Female
- Fetal Hemoglobin
- Gene Deletion
- Humans
- Male
- Middle Aged
- Molecular Sequence Data
- Multigene Family
- Phenotype
- Thalassemia
- Young Adult
- beta-Globins