Factor XI Deficiency.

Abstract:

:Severe factor XI (FXI) deficiency is an injury-related bleeding disorder common in Ashkenazi Jews and rare worldwide. In the past two decades, more than 180 mutations in the FXI gene have been reported in patients with FXI deficiency, five of which show a founder effect (Cys38Arg, Gln88Stop, Cys128Stop, Glu117stop, and Phe283Leu, the last two largely prevalent among Ashkenazi Jews). Inhibitors to FXI after exposure to plasma, FXI concentrates, or Rh immunoglobulin were described in patients with mutations resulting in null alleles. Treatment with low-dose recombinant activated factor VII in these patients appears promising. Survival advantages to patients with severe FXI have been recently reported. Herein, we present new observations related to clinic presentation, genotype-phenotype correlation, and treatment problems in patients with FXI deficiency.

journal_name

Semin Thromb Hemost

authors

Duga S,Salomon O

doi

10.1055/s-0029-1225764

subject

Has Abstract

pub_date

2009-06-01 00:00:00

pages

416-25

issue

4

eissn

0094-6176

issn

1098-9064

journal_volume

35

pub_type

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