The clinical impact of MTHFR polymorphism on the vascular complications of sickle cell disease

The clinical impact of MTHFR polymorphism on the vascular complications of sickle cell disease

Author Moreira Neto, F. Autor UNIFESP Google Scholar
Lourenco, Dayse Maria Autor UNIFESP Google Scholar
Noguti, Maria Aparecida Eiko Autor UNIFESP Google Scholar
Morelli, V.m. Autor UNIFESP Google Scholar
Gil, I.c.p. Autor UNIFESP Google Scholar
Beltrão, A.c.s. Autor UNIFESP Google Scholar
Figueiredo, Maria Stella Autor UNIFESP Google Scholar
Institution Universidade Federal de São Paulo (UNIFESP)
Abstract 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 years, range: 17-72 years) hemoglobinopathy. Factor V Leiden, MTHFR C677T polymorphism, and prothrombin G20210A variant were identified by PCR followed by further digestion of the PCR product with specific endonucleases. The following vascular complications were recorded: stroke, retinopathy, acute thoracic syndrome, and X-ray-documented avascular necrosis. Only one patient was heterozygous for factor V Leiden (1.8%) and there was no prothrombin G20210A variant. MTHFR 677TT polymorphism was detected in 1 patient (1.8%) and the heterozygous form 677TC was observed in 18 patients (34%, 9 with SS and 9 with SC disease), a prevalence similar to that reported by others. No association was detected between the presence of the MTHFR 677T allele and other genetic modulation factors, such as alpha-thalassemia, ß-globin gene haplotype and fetal hemoglobin. The presence of the MTHFR 677T allele was associated with the occurrence of vascular complications in SCD, although this association was not significant when each complication was considered separately. In conclusion, MTHFR C677T polymorphism might be a risk factor for vascular complications in SCD.
Keywords Sickle cell disease
SC hemoglobinopathy
Sickle hemoglobinopathies
Inherited hypercoagulation states
MTHFR polymorphism
Language English
Date 2006-10-01
Published in Brazilian Journal of Medical and Biological Research. Associação Brasileira de Divulgação Científica, v. 39, n. 10, p. 1291-1295, 2006.
ISSN 0100-879X (Sherpa/Romeo, impact factor)
Publisher Associação Brasileira de Divulgação Científica
Extent 1291-1295
Access rights Open access Open Access
Type Article
Web of Science ID WOS:000242173300004
SciELO ID S0100-879X2006001000004 (statistics in SciELO)

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