Variable severity of beta-thalassemia patients of eastern India: effect of alpha-thalassemia and xmnI polymorphism

Clin Exp Med. 2001 Sep;1(3):155-9. doi: 10.1007/s10238-001-8028-x.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Deoxyribonucleases, Type II Site-Specific*
  • Disease Progression
  • Genetic Markers
  • Globins / genetics*
  • Humans
  • India
  • Mutation*
  • Polymorphism, Genetic*
  • Restriction Mapping
  • alpha-Thalassemia / genetics*
  • alpha-Thalassemia / physiopathology
  • beta-Thalassemia / genetics*
  • beta-Thalassemia / physiopathology

Substances

  • Genetic Markers
  • Globins
  • endodeoxyribonuclease XmnI
  • Deoxyribonucleases, Type II Site-Specific