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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

09/1991

Volume

78

Pages

1589 - 1595

Addresses

Howard Hughes Medical Institute, Department of Human Genetics and Medicine, University of Pennsylvania, Philadelphia 19104.

Keywords

Humans, Thalassemia, Chromosome Deletion, Globins, RNA, Blotting, Southern, Chromosome Mapping, Polymerase Chain Reaction, Amino Acid Sequence, Genotype, Genes, Molecular Sequence Data, Child, Female, Operator Regions, Genetic