Abstract

MARTINEZ, Imelda; VALDEZ, Rosa; AZAMBUJA, Carlos  and  ESTRADA, Nicolás. Hereditary trombofilia. Prevalence of mutations in factor II, V and in the Metiltetrahidrofolato Reductasa, in a population of donors of Blood of Paraguay. An. Fac. Cienc. Méd. (Asunción) [online]. 2005, vol.38, n.4, pp.17-29. ISSN 1816-8949.

Trombofilia hereditary is a tendency genetically determined to develop trombosis. Between the most common causes can be mentioned, protein deficiencies certain of the coagulation, like Antitrombina, protein C, protein S, and also, certain mutations in the factors of the coagulation: Factor V Leiden, Protrombina G20210A, and mutations in the Metiltetrahidrofolatoreductasa enzyme (MTHFR), among others. OBJETIVES. To identify one of the most frequent mutations and its prevalence, in the gene of Factor V, Protrombina, the MTHFR, in a population of donors of blood of Paraguay. MATERIAL AND METHODS. Prospective observational study. For this work, blood samples of 200 donors of the Blood donation point have been taken from the Hospital of Clinics, that reunited the criteria from inclusion to the study. All sequentially went in November and December of year 2001. It was purified and the DNA of each sample was extracted using the Wizard system of Promega. The amplification by chain reaction was made of the polymerase (PCR). In factor V the A506 mutation has been identified (FV Leiden). In factor II mutation G20210A, and in the MTHFR mutation C677T. In the study of factor II, were 5 individuals (Aa), with mutation G20210A, a prevalence of 2.5 %. Factor V Leiden was observed in 4 heterocigotos individuals (Aa), prevalence of 2 %. Mutation C677T of the MTHFR was in 85 heterocigotos individuals (Aa), and 27 homocigotos individuals (aa), with a prevalence of 56 %. CONCLUSIONS. The mutations have been identified more frequently you decipher in the studied factors. The prevalence of genotype FII G20210A, FV Leiden and the codificante gene for MTHFR, C677T, found in the studied healthy individuals, is similar to the found one in most of the Latin countries.

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