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The clinical impact of MTHFR polymorphism on the vascular complications of sickle cell disease BJMBR
Moreira Neto,F.; Lourenço,D.M.; Noguti,M.A.E.; Morelli,V.M.; Gil,I.C.P.; Beltrão,A.C.S.; Figueiredo,M.S..
Sickle cell disease (SCD) is one of the most common inherited diseases in the world and the patients present notorious clinical heterogeneity. It is known that patients with SCD present activation of the blood coagulation and fibrinolytic systems, especially during vaso-occlusive crises, but also during the steady state of the disease. We determined if the presence of the factor V gene G1691A mutation (factor V Leiden), the prothrombin gene G20210A variant, and methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism may be risk factors for vascular complications in individuals with SCD. We studied 53 patients with SCD (60% being women), 29 with SS (sickle cell anemia; 28 years, range: 13-52 years) and 24 with SC (sickle-hemoglobin C disease; 38.5...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Sickle cell disease; SC hemoglobinopathy; Sickle hemoglobinopathies; Inherited hypercoagulation states; MTHFR polymorphism.
Ano: 2006 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2006001000004
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