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 m apping studies show that the deletion in this family spans 36.5-40 kbp and removes the entire alpha globin locus. This represents a novel de letion causing alpha-thalassemia-1, here termed ''--(RT).'' The 5' bre akpoint is localized near the 5' breakpoints of previously described d eletions in Thai and Filipino persons, consistent with this being an u nstable region of chromosome 16.