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We describe a family in which α-thalassemia occurs in association with a deletion of 62 kilobases from a region upstream of the α globin genes. DNA sequence analysis has shown that the transcription units of both α genes downstream of this deletion are normal. Nevertheless, they fail to direct α globin synthesis in an interspecific hybrid containing the abnormal (αα)(RA) chromosome. It seems probable that previously unidentified positive regulatory sequences analogous to those detected in a corresponding position of the human β globin cluster are removed by this deletion.

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Journal article



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221 - 227