[Clinical comments on genetic marker prevalence (factor V Leiden, prothrombin 20210A and homozygous methylenetetrahydrofolate reductase form [Ho-MTHFR]): based on a study conducted in Health Department No. 19 of the Valencian Community].
The prevalence of genetic markers in ETV disease patients in the 19th Health Department of Valencian Community were: FVL: 9.2%; PT20210 A: 10.5% and Ho-MTHFR: 23.7%. The FVL and PT20210 A prevalence results are lower respect to the literature, while Ho-MTHFR patients, have a higher prevalence with statistical significance difference respect the control group. We considered FVL, PT20210 A and Ho-MTHFR as ETV risk markers. The prevalence of genetic markers in healthy population of the same Health Department were: FVL: 5.8%; PT20210 A: 7.1%, and Ho-MTHFR: 7.7%. We must considered the specific study of these genetic risk markers (FVL, PT20210 A, Ho-MTHFR) in ETV disease affected subjects. The study of first degree relatives of the analyzed patients, should be of great utility to planified genetic advice and practice ETV prophylaxis.
García-Hernández
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MC
Servicio de Hematología y Hemoterapia, Sección de Coagulación, Hospital General Universitario de Alicante, Alicante, España.
Romero Casanova
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A
Marco Vera
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P
D016022:Case-Control Studies; D005165:Factor V / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D009154:Mutation; D011516:Prothrombin / Q000235:genetics*; D013030:Spain; D013923:Thromboembolism / Q000235:genetics*
C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin; D042965:Methylenetetrahydrofolate Reductase (NADPH2)