A novel monoclonal antibody based diagnostic test for a-thalassemia-1 carriers due to the (-(SEA)/) deletion

Abstract

The presence of minute amounts of embryonic ?-globin chains in adult hemolysates is a marker for carriers of a-thalassemia-1 resulting from (-(SEA)/) deletion. Recently, we developed a murine monoclonal antihuman embryonic ?-globin chain antibody, 8E8. By using this antibody, we have now established a slot-blot immunobinding assay for the rapid detection of ?-globin chains in adult hemolysates. ?-globin chains were found to be present in 30 blood samples obtained from individuals who were carriers of a-thalassemia-1. In another 30 blood samples from individuals who were not carriers of the (-(SEA)/) deletion. ?-globin chains were not detected. This simple diagnostic test can be used in appropriate populations to identify those couples at risk of conceiving fetuses afflicted with the Hb Bart's hydrops fetalis syndrome due to homozygous a-thalassemia.