Andrade F L, Annichino-Bizzacchi J M, Saad S T, Costa F F, Arruda V R
Department of Internal Medicine, Hematology-Hemotherapy Center, State University of Campinas-UNICAMP, Campinas-SP, 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-#.
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.
在镰状细胞病（SCD）患者中，测定了凝血酶原基因变异体（等位基因20210A）、因子V莱顿突变以及亚甲基四氢叶酸还原酶（MTHFR）基因中677C→T转换的纯合性。该组包括73例患者，中位年龄为32.3岁，其中53例诊断为镰状细胞贫血，16例为血红蛋白病SC，4例为S/β0地中海贫血。9例患者诊断出血管并发症，如缺血性中风或深静脉血栓形成。4例患者被鉴定为凝血酶原基因变异体或因子V莱顿突变的杂合子。然而，只有1例发生缺血性中风的患者被鉴定为因子V莱顿突变携带者。没有患者表现出MTHFR热不稳定变异体的纯合性。这些数据表明，在巴西的SCD患者中，遗传性高凝风险因素对血栓形成、闭塞性中风或死亡率数据的临床影响较低。
