Characterization of a newly discovered α-thalassaemia-1 in two Spanish patients with Hb H disease

Abstract

A new deletion of more than 27 kb, removing the Ψζ1, Ψα2, Ψα1, α2, α1 and θ1 globin genes has been found in four members of a Spanish family, including two patients with Hb H disease. The 5’end point of the deletion is located between the ζ and Ψζ genes, and the 3’end of the deletion is downstream of the 3’hypervariable region.