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Alpha-thalassemia caused by a large (62 kb) deletion upstream of the human
alpha globin gene cluster
CS Hatton, AO Wilkie, HC Drysdale, WG Wood, MA Vickers, J Sharpe, H Ayyub, IM Pretorius, VJ Buckle and DR Higgs
MRC Molecular Haematology Unit, John Radcliffe Hospital, Oxford, UK.
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 those detected in a
corresponding position of the human beta globin cluster are removed by this
deletion.
Volume 76,
Issue 1,
pp. 221-227,
07/01/1990
Copyright © 1990 by The American Society of Hematology
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