Article
Direct demonstration that the A gamma T globin gene is linked to the 4 bp promoter deletion in the beta A chromosome of sickle cell traits.
American journal of hematology - 1 Aug 1993
Gilman J G, Josifovska O, Erlingsson S, Milner P F, Nagel R L
Abstract excerpt
In beta zero-thalassemia and sickle cell patients, a 4 bp deletion at -222 to -225 of the A gamma globin promoter was associated with low expression of the A gamma T variant (threonine at codon 75 of A gamma), whereas A gamma I (isoleucine at 75) had the normal A gamma promoter and higher expression. However, it has been reported that the beta A chromosomes of sickle cell trait cases have the 4 bp deletion as a...
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