title: Alpha-thalassemia resulting from deletion of regulatory sequences far upstream of the alpha-globin structural genes.
abstract: 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.
authors.affiliation: Howard Hughes Medical Institute, Department of Human Genetics and Medicine, University of Pennsylvania, Philadelphia 19104.
authors.forename: L
authors.initials: L
authors.lastname: Romao
authors.forename: L
authors.initials: L
authors.lastname: Osorio-Almeida
authors.forename: D R
authors.initials: DR
authors.lastname: Higgs
authors.forename: J
authors.initials: J
authors.lastname: Lavinha
authors.forename: S A
authors.initials: SA
authors.lastname: Liebhaber
mesh_terms: D000595:Amino Acid Sequence; D015139:Blotting, Southern; D002648:Child; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D005260:Female; D005796:Genes / Q000235:genetics*; D005838:Genotype; D005914:Globins / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D009875:Operator Regions, Genetic / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012313:RNA / Q000032:analysis*; D013789:Thalassemia / Q000235:genetics*
chemical_list: D012313:RNA; D005914:Globins