Acessibilidade / Reportar erro

Predisposing thrombophilic mutations in individuals with clinical suspicion of thrombosis from Minas Gerais, Brazil

Thrombosis is known to be a multifactorial disease. Its incidence is directly related to the presence of genetic and acquired factors that concur separately or in association to its appearance. However, the frequency of genetic factors can vary according to ethnic background and with other epidemiological aspects of populations. Data from Brazilian individuals and especially those from the State of Minas Gerais are scarce. The present study aims at investigating the frequencies of the factor v Leiden and the G20210G prothrombin gene mutations of 1103 individuals with clinical suspicion of thrombophilia employing the Polymerase Chain Reaction technique followed by enzymatic restriction (PCR-RFLP). The data were analyzed using the Epi Info computer program version 6.04. The sample constituted of 76.16% women and 23.84% men, with an average age of 43.06 ± 14.65 years. The factor V Leiden mutation was observed as heterozygosis in 7.5% of individuals and as homozygosis in 0.36%. The G20210A prothrombin gene mutation appeared as heterozygosis in 5.90% of the individuals and as homozygosis in 0.18%. The present study shows the importance of genetic tests taking into account the profile of the studied population, and stressing the epidemiological information of the Brazilian population and the clinical benefits.

Thrombophilia; factor V Leiden; prothrombin gene mutation; Brazil


Associação Brasileira de Hematologia e Hemoterapia e Terapia Celular R. Dr. Diogo de Faria, 775 cj 114, 04037-002 São Paulo/SP/Brasil, Tel. (55 11) 2369-7767/2338-6764 - São Paulo - SP - Brazil
E-mail: secretaria@rbhh.org