Sixty-four thalassemia and E-β thalassemia patients were studied for factors that modulate the severity of the disease; i.e., mutation of β-globin gene, presence of α-deletion, and presence of an XmnI site at the -158 position of the Gγ gene. Presence of α-deletion and/or homozygosity for the XmnI site was in general associated with less-severe disease. About 12% of the patients harbored single α-gene deletion, and the gene frequency of the XmnI polymophism in these patients is 0.48.
- Eastern India
- XmnI polymorphism
ASJC Scopus subject areas
- Biochemistry, Genetics and Molecular Biology(all)