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

✍ Scribed by Andrade, Fernanda L.; Annichino-Bizzacchi, Joyce M.; Saad, Sara T. O.; Costa, Fernando F.; Arruda, Valder R.

• Publisher: John Wiley and Sons
• Year: 1998
• Tongue: English
• Weight: 76 KB
• Volume: 59
• Category: Article
• ISSN: 0361-8609
• DOI: 10.1002/(sici)1096-8652(199809)59:1<46::aid-ajh9>3.0.co;2-#

✦ Synopsis

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/␤ 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.