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Population differences in the frequency of the factor V Leiden variant among people with clinically symptomatic protein C deficiency.
  1. P J Hallam,
  2. D S Millar,
  3. M Krawczak,
  4. V V Kakkar,
  5. D N Cooper
  1. Charter Molecular Genetics Laboratory, Thrombosis Research Institute, London, UK.


    The factor V Leiden variant, responsible for the phenomenon of activated protein C resistance, was found to be less frequent among British (0.06) and Swedish/Danish (0.15) protein C deficiency patients than previously reported in a Dutch study (0.19). In the Swedish population, a significantly increased frequency of the factor V Leiden allele was apparent in protein C deficiency patients as compared to healthy controls. However, this was not found in the British population. Coinheritance of the factor V Leiden variant is therefore unlikely to be the sole determinant of whether a person with protein C deficiency will come to clinical attention. Nevertheless, when patient data were analysed by type of protein C deficiency, it was noted that the frequency of the factor V Leiden variant was 2.8-fold higher in type II patients compared to type I patients. A possible explanation of this disparity is discussed.

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