Abstract
Sixty-four thalassemia and E-beta thalassemia patients were studied for factors that modulate the severity of the disease; i.e., mutation of beta-globin gene, presence of alpha-deletion, and presence of an XmnI site at the -158 position of the Gy gene. Presence of alpha-deletion and/or homozygosity for the XmnI site was in general associated with less-severe disease. About 12% of the patients harbored single alpha-gene deletion, and the gene frequency of the XmnI polymophism in these patients is 0.48.
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