Prothrombin mutant, factor V Leiden, and thermolabile variant of methylenetetrahydrofolate reductase among patients with sickle cell disease in Brazil

Am J Hematol. 1998 Sep;59(1):46-50. doi: 10.1002/(sici)1096-8652(199809)59:1<46::aid-ajh9>3.0.co;2-#.

Abstract

The prevalence of the prothrombin gene variant (allele 20.210 A), factor V Leiden mutation, and homozygosity for transition 677C-->T in the methylenetetrahydrofolate reductase (MTHFR) gene was determined among patients with sickle cell disease (SCD). The group included 73 patients with median age of 32.3 years with a diagnosis of sickle cell anemia in 53 patients, hemoglobinopathy SC in 16 patients, and four with S/beta(0) thalassemia. Vascular complications such as ischemic stroke or deep vein thrombosis were diagnosed in nine patients. Heterozygosity for the prothrombin gene variant or factor V Leiden mutation was identified in four patients. However, only one patient, who developed ischemic stroke, was identified as a carrier of factor V Leiden mutation. None of the patients presented homozygosity for the thermolabile variant of the MTHFR. These data suggest a low clinical impact of inherited hypercoagulability risk factors in developing thrombosis, occlusive stroke, or mortality data among patients with SCD in Brazil.

MeSH terms

  • Adolescent
  • Adult
  • Anemia, Sickle Cell / complications
  • Anemia, Sickle Cell / epidemiology
  • Anemia, Sickle Cell / genetics*
  • Brazil / epidemiology
  • Factor V / genetics*
  • Female
  • Gene Frequency
  • Genetic Variation
  • Heterozygote
  • Homozygote
  • Humans
  • Leg Ulcer / etiology
  • Male
  • Methylenetetrahydrofolate Reductase (NADPH2)
  • Middle Aged
  • Mutation / genetics
  • Osteonecrosis / etiology
  • Oxidoreductases Acting on CH-NH Group Donors / genetics*
  • Prevalence
  • Priapism / etiology
  • Prothrombin / genetics*
  • Temperature
  • Thromboembolism / etiology

Substances

  • factor V Leiden
  • Factor V
  • Prothrombin
  • Oxidoreductases Acting on CH-NH Group Donors
  • Methylenetetrahydrofolate Reductase (NADPH2)