Polymorphisms associated with sickle cell disease in Southern Iran

Genetika. 2012 Jul;48(7):890-3.

Abstract

Sickle cell disease (SCD) is an inherited autosomal recessive disorder. We aimed to describe the spectrum of haplotyes of BS-gene and to investigate a relationship with disease phenotype in patients with SCD in Southern Iran. We didn't find any significant association between BS-globin gene haplotypes and clinical severity of the disease in an Iranian population. The exact mechanism by which the BS-globin gene polymorphism affects clinical presentation is not obvious; however, further detailed studies at the molecular level, with a larger sample size are required to show the mechanisms that influence the clinical presentation of SCD in Iranian population.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Anemia, Sickle Cell / genetics*
  • Blood Transfusion
  • Child
  • Child, Preschool
  • Female
  • Genetic Association Studies
  • Haplotypes
  • Humans
  • Iran
  • Male
  • Polymorphism, Genetic*
  • Polymorphism, Restriction Fragment Length
  • beta-Globins / genetics*

Substances

  • beta-Globins