title: A novel deletion of the entire alpha globin locus causing alpha-thalassemia-1 in a northern European family.
abstract: alpha-Thalassemia, though one of the most common genetic abnormalities in humans, is uncommon outside of tropical or subtropical regions of the world. The authors describe a family of northern European ancestry with a clinical presentation consistent with alpha-thalassemia-1, or deletion of both alpha globin genes on chromosome 16 in cis. Genomic mapping studies show that the deletion in this family spans 36.5-40 kbp and removes the entire alpha globin locus. This represents a novel deletion causing alpha-thalassemia-1, here termed "--RT." The 5' breakpoint is localized near the 5' breakpoints of previously described deletions in Thai and Filipino persons, consistent with this being an unstable region of chromosome 16.
authors.affiliation: Department of Laboratory Medicine, University of Washington School of Medicine, Seattle 98195.
authors.forename: D E
authors.initials: DE
authors.lastname: Sabath
authors.forename: J C
authors.initials: JC
authors.lastname: Detter
authors.forename: J F
authors.initials: JF
authors.lastname: Tait
mesh_terms: D000328:Adult; D015139:Blotting, Southern; D004739:England; D005192:Family Health; D017353:Gene Deletion; D005858:Germany; D005914:Globins / Q000235:genetics*; D006801:Humans; D015151:Immunoblotting; D017085:alpha-Thalassemia / Q000235:genetics*
chemical_list: D005914:Globins