Abstract

PARRA-ORTEGA, Israel et al. Coexistence of C677T and A1298C mutations in the 5,10 methylenetetrahydrofolate reductase enzyme in pediatric patients with thrombosis. Bol. Med. Hosp. Infant. Mex. [online]. 2009, vol.66, n.3, pp.229-233. ISSN 1665-1146.

Introduction. One of the thrombophilic conditions that has been widely studied is the C677T mutation in the gene encoding the 5,10 methylenetetrahydrofolate reductase (MTHFR) enzyme. The presence of mutation A1298C in the same gene is also considered as one factor that predisposes thrombosis. Methods. We report on 9 pediatric patients diagnosed with thrombophilia, 7 males and 2 females with ages ranging from 1 month to 13 years. Real-time polymerase chain reaction was performed along with the study of the C677T and A1298C mutations in the MTHFR enzyme, G1691A mutation (Leiden) and factor V, prothrombin mutation G20210A. Conventional methods were used for activated protein C (APC) resistance and protein C and S coagulation, as well as antithrombin (AT). Results. All patients had coexisting mutations C677T and A1298C in MTHFR. Only 1 patient was homozygous for C6 7 7T and heterozygous for A1298C. The other 8 patients presented heterozygous mutations and in the 9 patients the presence of mutations of G 1691A factor V (Leiden) and G20210A prothrombin was not demonstrated, as well as alterations in APC, AT and proteins C and S. Conclusions. Coexistence of the C677T and A1298C mutations should be considered for investigation in all patients presenting thrombophilia.

Keywords : Thrombosis; methylenetetrahydrofolate reductase; factor V; Leiden.