Assessment of the 20210 G to A prothrombin variant in a sample of patients from the French Basque Country with various thrombophilic conditions.
We investigated the distribution of the prothrombin variant G20210A (PT20210A) in a sample of 103 patients (mean age: 34.5 years) living in the French Basque Country and presenting with conditions known to be significantly associated with this peculiar mutation according to a literature review. These patients suffered from repeated personal or familial venous thromboses, stroke at young age, or repetitive maternal-fetal disorders (abortions, preeclampsia, fetal growth retardation). Five patients (4.8%) were found to be carriers: two homozygotes and three heterozygotes (one also heterozygote for factor V Leiden). Of note, two presented with mesenteric venous thrombosis. The distribution of PT20210A among our sample was comparable to data from Western European series albeit a tendency for lower mutation prevalence was observed in our subgroup with obstetrical disorders. In addition, no significant difference in PT20210A frequency was evidenced between autochthonous Basques and individuals from other origins.
Department of Hematology, Centre Hospitalier de la Côte Basque, 64100, Bayonne, France. fbauduer001@CHCB.rss.fr
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Bauduer
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Ducout
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Freyburger
D019943:Amino Acid Substitution; D005006:Ethnicity / Q000235:genetics*; D005602:France; D014644:Genetic Variation; D005843:Geography; D006801:Humans; D017354:Point Mutation; D011516:Prothrombin / Q000235:genetics*; D019851:Thrombophilia / Q000235:genetics*
D011516:Prothrombin