Characterization of a New α-Thalassemia-1 Deletion in a Spanish Family

Abstract

A new type of α-thalassemia-1 was characterized in one Spanish patient with Hb H disease and in her mother. The restriction map of this deletion suggests that the deletion of 22 kb has occurred on a chromosome carrying a ζ-globin triplication. The resulting chromosome lacks the α2- and α1-globin genes, the ψα2- and ψα1-globin genes, and one of the three ζ-globin genes, while the other two ζ-globin genes and the 01-globin gene have been retained.