Variable severity of β-thalassemia patients of Eastern India: Effect of α-thalassemia and XmnI polymorphism

S. Bandyopadhyay, K. Roychowdhury, S. Chandra, M. Das, U. B. Dasgupta

Research output: Contribution to journalArticle

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Abstract

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.

Original languageEnglish (US)
Pages (from-to)155-159
Number of pages5
JournalClinical and Experimental Medicine
Volume1
Issue number3
DOIs
StatePublished - Jan 1 2001
Externally publishedYes

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Keywords

  • Eastern India
  • Severity
  • XmnI polymorphism
  • α-Thalassemia
  • β-Thalassemia

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)

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