A novel deletion of the entire alpha globin locus causing alpha-thalassemia-1 in a northern European family.
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.
Sabath
D E
DE
Department of Laboratory Medicine, University of Washington School of Medicine, Seattle 98195.
Detter
J C
JC
Tait
J F
JF
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*
D005914:Globins