Factor XI Deficiency caused by a hitherto unknown Mutation in the Factor XI Gene

摘要

In 1953, Rosenthal et al. [14] described a new hemophilia-like bleeding disorder. In contrast to the true hemophilias, the newly detected coagulation defect was present in males and females. Moreover, in mixing experiments the observed defect could be corrected by blood specimens obtained from patients with both forms of hemophilia. The authors designated the presumably missing factor as ,5plasma thrombo-plastin antecedent" (PTA), which is today known as coagulation factor XL.The factor XI deficiency is a rare defect in most populations worldwide,- among the patients registered in the hemophilia treatment centers in the UK only 5% are factor XI deficient [4]. However, a very high prevalence rate of the factor XI deficiency exists in the population of the Ashkenazi Jews. Seligsohn [15] reported a frequency of 1:190 for the severe factor XI deficiency (homozygotes or compound-heterozygotes) and calculated a confidence limit for the heterozygous state of factor XI deficiency between 5.5 and 11 %.