Molecular characterization of a new family with α-Thalassemia-1 (——MA mutation)

A Spanish family with α-thalassemia-1 (α.Thal.1), deletion (- - MA ), is described. In addition to the loss of 22 kb of DNA with a deletion of the α 1 , α 2 , Ψ α1 , Ψ α2 , and Ψζ 1 , genes, a triplication of the ζ gene cluster in cis is produced. The structure of this triplication is formed by the Ψζ 1 , gene, the interzeta region, and, possibly, the insertion of the Ψα 2 fragment. © 1995 Wiley-Liss, Inc.