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), 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.
Andrade
F L
FL
Department of Internal Medicine, Hematology-Hemotherapy Center, State University of Campinas-UNICAMP, Campinas-SP, Brazil.
Annichino-Bizzacchi
J M
JM
Saad
S T
ST
Costa
F F
FF
Arruda
V R
VR
D000293:Adolescent; D000328:Adult; D000755:Anemia, Sickle Cell / Q000150:complications / Q000453:epidemiology / Q000235:genetics*; D001938:Brazil / Q000453:epidemiology; D005165:Factor V / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D014644:Genetic Variation; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007871:Leg Ulcer / Q000209:etiology; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D010020:Osteonecrosis / Q000209:etiology; D000587:Oxidoreductases Acting on CH-NH Group Donors / Q000235:genetics*; D015995:Prevalence; D011317:Priapism / Q000209:etiology; D011516:Prothrombin / Q000235:genetics*; D013696:Temperature; D013923:Thromboembolism / Q000209:etiology
C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin; D000587:Oxidoreductases Acting on CH-NH Group Donors; D042965:Methylenetetrahydrofolate Reductase (NADPH2)