Identification and molecular characterization of four new large deletions in the beta-globin gene cluster.

@article{Joly2009IdentificationAM,
  title={Identification and molecular characterization of four new large deletions in the beta-globin gene cluster.},
  author={Philippe Joly and Philippe Lacan and Caroline E Garcia and Nicole Couprie and Alain Francina},
  journal={Blood cells, molecules & diseases},
  year={2009},
  volume={43 1},
  pages={53-7}
}
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… CONTINUE READING