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 β-thalassemia; silent β-thalassemia, Hb E, sickle cell anemia), were studied for a rearrangement (+ATA; -T) at nucleotide-530 in the 5’ flanking region of the β-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 β-thalassemia, as has been suggested (5).