(Aγδβ)°‐Thalassaemia in Blacks is due to a deletion of 34 kbp of DNA

Abstract
DNA from members of 10 Black families with conditions considered to be G.gamma.(.delta..beta.).degree.-thalassemia or G.gamma.(.delta..beta.).degree.-HPFH [hereditary persistence of fetal Hb] were studied by using restriction enzyme analysis. One or more affected members from each family were shown to have the same deletion of 34 kbp [kilobase pairs] or DNA in the human .beta.-globin gene cluster. A clone spanning the deletion was isolated from the DNA of 1-such person and studied in detail. The deletion removed part of the A.gamma. and all of the .psi..beta., .delta. and .beta.-globin genes and is different from the 4 previously identified deletions which caused a condition presently known as (A.gamma..delta..beta.).degree.-thalassemia.