The Prevalence of Factor V Leiden (G1691A) and Methylenetetrahydrofolate Reductase C677T Mutations in Sickle Cell Disease in Western India

Clin Appl Thromb Hemost. 2015 Mar;21(2):186-9. doi: 10.1177/1076029613495308. Epub 2013 Jul 17.

Abstract

The prevalence of the Factor V Leiden (FVL; G1691A) mutation and the methylenetetrahydrofolate reductase (MTHFR; C677T) mutation was determined in 180 patients with sickle cell (SS) disease (126 sickle homozygous and 54 sickle β-thalassaemia--age 1-47 years) and in 130 healthy controls. The FVL mutation in the heterozygous state was present in only 3 patients with SS disease and was absent in the controls. Genotyping of MTHFR 677C > T revealed increased frequency of the C allele than the T allele in patients as well as in controls. This suggests that these genetic markers may not be major risk factors for a hypercoagulable state in Indian patients with SS disease.

Keywords: Factor V Leiden; methylenetetrahydrofolate reductase; polymorphisms; sickle cell disease.

Publication types

  • Clinical Trial
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Alleles*
  • Anemia, Sickle Cell / epidemiology
  • Anemia, Sickle Cell / genetics*
  • Child
  • Child, Preschool
  • Factor V / genetics*
  • Female
  • Humans
  • India
  • Infant
  • Male
  • Methylenetetrahydrofolate Reductase (NADPH2) / genetics*
  • Middle Aged
  • Mutation, Missense*
  • Prevalence
  • Risk Factors

Substances

  • factor V Leiden
  • Factor V
  • MTHFR protein, human
  • Methylenetetrahydrofolate Reductase (NADPH2)