Alpha-thalassemia caused by a large (62 kb) deletion upstream of the human alpha globin gene cluster.

@article{Hatton1990AlphathalassemiaCB,
  title={Alpha-thalassemia caused by a large (62 kb) deletion upstream of the human alpha globin gene cluster.},
  author={Christian S. R. Hatton and Andrew O M Wilkie and Henry Drysdale and William G. Wood and Mark Armstrong John Vickers and James Sharpe and Helena Ayyub and I M Pretorius and Veronica J. Buckle and Douglas R Higgs},
  journal={Blood},
  year={1990},
  volume={76 1},
  pages={221-7}
}
We describe a family in which alpha-thalassemia occurs in association with a deletion of 62 kilobases from a region upstream of the alpha globin genes. DNA sequence analysis has shown that the transcription units of both alpha genes downstream of this deletion are normal. Nevertheless, they fail to direct alpha globin synthesis in an interspecific hybrid containing the abnormal (alpha alpha)RA chromosome. It seems probable that previously unidentified positive regulatory sequences analogous to… CONTINUE READING

From This Paper

Topics from this paper.

Citations

Publications citing this paper.
Showing 1-10 of 24 extracted citations

Similar Papers

Loading similar papers…