Alpha-thalassemia resulting from deletion of regulatory sequences far upstream of the alpha-globin structural genes.

@article{Romo1991AlphathalassemiaRF,
  title={Alpha-thalassemia resulting from deletion of regulatory sequences far upstream of the alpha-globin structural genes.},
  author={Lu{\'i}sa Rom{\~a}o and Leonor Os{\'o}rio-Almeida and Douglas R Higgs and Jo{\~a}o Lavinha and S. A. Liebhaber},
  journal={Blood},
  year={1991},
  volume={78 6},
  pages={1589-95}
}
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. 

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