BLACK ALPHA-THALASSEMIA-1 - PARTIAL CHARACTERIZATION OF AN SIMILAR-TO-80 KB DELETION WHICH INCLUDES THE ZETA-GLOBIN AND ALPHA-GLOBIN GENES

A large novel alpha-thalassemia-1 deletion which includes the zeta-, a lpha2-, alpha1-, and theta1-globin genes is described in a Black famil y 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 zeta-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 alpha(2)68(E12)Asn-->Lys beta2 because his se cond chromosome carried the -alpha(G)(-3.7 kb) alpha-thalassemia-2 del etion.