High Frequencies of a Rearrangement (+ATA; -T) at -530 to the β-Globin Gene in Different Populations Indicate the Absence of a Correlation with a Silent β-Thalassemia Determinant

Abstract
DNA samples from numerous subjects of different racial and ethnic backgrounds, with or without various hemoglobinopathies (classical .beta.-thalassemia; silent .beta.-thalassemia, Hb E, sickle cell anemia), were studied for a rearrangement (+ATA; -T) at nucleotide -530 in the 5'' flanking region of the .beta.-globin gene using amplified DNA and 32P-labeled synthetic oligonucleotide probes. The data show that this unusual sequence is a common feature among East-Asians and Blacks (particularly SS patients), and is not associated with mild thalassemic features typical for the silent form of .beta.-thalassemia, as has been suggested (5).