PROTHROMBIN MUTANT, FACTOR-V-LEIDEN, AND THERMOLABILE VARIANT OF METHYLENETETRAHYDROFOLATE REDUCTASE AMONG PATIENTS WITH SICKLE-CELL DISEASE IN BRAZIL

The prevalence of the prothrombin gene variant (allele 20.210 A), fact or 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 patient s 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/b eta(0) thalassemia, Vascular complications such as ischemic stroke or deep vein thrombosis were diagnosed in nine patients. Heterozygosity f or the prothrombin gene variant or factor V Leiden mutation was identi fied in four patients. However, only one patient, who developed ischem ic stroke, was identified as a carrier of factor V Leiden mutation. No ne of the patients presented homozygosity for the thermolabile variant of the MTHFR, These data suggest a low clinical impact of inherited h ypercoagulability risk factors in developing thrombosis, occlusive str oke, or mortality data among patients with SCD in Brazil. (C) 1998 Wil ey-Liss, Inc.