Heterogeneity of DNA deletion in γδβ-thalassemia

Abstract

By restriction endonuclease mapping, gene cloning, and DNA sequencing we have determined the region of DNA that is deleted in a family with γδβ-thalassemia. The deletion removes the linked ε-, γ-, and δ-globin structural genes and terminates within the coding portion of the β-globin gene. Since the extent of DNA deletion in this family differs from that reported in another family, we conclude that γδβ-thalassemia is heterogeneous at the molecular level.