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

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.

Factor V‐Leiden, prothrombin G20210A, and MTHFR C677T mutations among patients with sickle cell disease in Eastern Saudi Arabia

“…Inherited risk factors for vascular disease include factor V (FV) Leiden (G1691A/R506Q) [2], prothrombin (PRT) G20210A [3], and methylenetetrahydrofolate reductase (MTHFR) C677T point mutations [4]. In view of their role in enhancing thrombus formation, it was suggested that these mutations play a role in the pathogenesis of SCD [5,6] and/or its complications. In this study, the prevalence of these three point mutations was assessed in 87 SCD patients and 105 healthy controls from Eastern Saudi Arabia.…”

Lack of association between the prothrombin rs1799963 polymorphism and juvenile myoclonic epilepsy

“…In fact, in general Brazilian population the mutant allele frequency ranged between 0.7%-3.6% (rs1799963*A) 23,24,25 . Brazilian population has an extremely heterogeneous ethnic composition, unevenly distributed across the country with variable degrees of admixtures 25 .…”

Frequency of the 677 C→T mutation of the methylenetetrahydrofolate reductase gene among Kuwaiti sickle cell disease patients

“…The sequences of the primers and the PCR conditions were previously described [10]. The product was digested with HinfI and the two fragments (175 and 23 bp, respectively) were demonstrated by gel electrophoresis as previously described [12,13].…”

“…A C→T substitution at nucleotide 677 in the methylenetetrahydrofolate reductase (MTHFR) gene is associated with a thermolabile phenotype and diminished enzyme activity with consequent hyperhomocysteinemia. Studies among SCD patients from Brazil [12] and the United States [13,14] have not demonstrated an association with ischemic stroke; however, Kutlar et al [15] identified this MTHFR mutation as a risk factor in the development of avascular Contract grant sponsor: Kuwait Research Grant; Contract grant number: MK034. necrosis (AVN) among their patients.…”