Black α-Thalassemia-1: Partial Characterization of an ∼80 KB Deletion Which Includes the ξ- and α-Globin Genes

Abstract

A large novel α-thalassemia-1 deletion which includes the ξ-, α2-, α1-, and θ1-globin genes is described in a Black family living in Georgia and Florida. The deletion which was characterized by restriction enzyme analysis, extends 15 to 35 kb 5′ and at least 35 kb 3′ to the Cap site of the ξ-globin gene. Mental retardation was not observed. The deletion was present in a 35-year-old male with Hb H disease and his mother; the major hemoglobin type in the propositus was Hb G-Philadelphia or α₂68(E12)Asn→Lysß₂ because his second chromosome carried the -α^G(-3.7 kb) α-thalassemia-2 deletion.