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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.

Type

Journal article

Journal

Blood

Publication Date

1991

Volume

78

Pages

1589 - 1595

Keywords

Amino Acid Sequence Blotting, Southern Case Report Child *Chromosome Deletion Chromosome Mapping Female Genes, Structural/*genetics Genotype Globins/*genetics Human Molecular Sequence Data Operator Regions (Genetics)/*genetics Polymerase Chain Reaction RNA/*analysis Support, Non-U.S. Gov't Thalassemia/*genetics