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THE FREQUENCIES OF FACTOR V LEIDEN AND PROTHROMBIN 20210A GENE MUTATIONS IN HEALTHY CHILDREN

Cengiz ERTÜRK¹, Öznur DÜZOVALI¹, Necati MUŞLU², Gülçin ESKANDARݲ, Arzu KANIK³, Esat YILGÖR<sup>1

1</sup>Mersin Üniversitesi Tıp Fakültesi, Çocuk Sağlığı ve Hastalıkları Anabilim Dalı, MERSİN
²Mersin Üniversitesi Tıp Fakültesi, Biyokimya Anabilim Dalı, MERSİN
³Mersin Üniversitesi Tıp Fakültesi, Biyoistatistik Anabilim Dalı, MERSİN

Keywords: Factor V Leiden mutation, Protrombin 20210A mutation, Thrombosis

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The aim of this study was to evaluate the frequencies of Factor V Leiden (FVL) and prothrombin 20210A mutations in healthy children.

In this study, 496 healthy children were enrolled. We studied FVL and prothrombin 20210A mutations with real-time polimerase chain reaction. Median age was 5 years (10mos -16 yrs). The frequency of FVL mutation was 7.1%. While thirty four of 35 cases had heterozygous, one patient had homozygous FVL mutation. Similarly, the frequency of prothrombin 20210A mutation was 6.9%. Thirty three of 34 cases had heterozygous, one patient had homozygous prothrombin 20210A mutation. One patient had both FVL and protrombin 20210A heterozygous mutations. The presence of FVL and protrombin 20210A mutations were statistically independent from gender and family history of thrombosis.

To the best of our knowledge, this is the first study, investigating the frequencies of FVL and protrombin 20210A mutations in childhood in Çukurova region. Our findings suggest that while the frequency of FVL mutation in our trial is similar to the results of the other studies reported in our country, the frequency of prothrombin 20210A mutation is higher than those of reported from Ankara and Edirne.

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