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From SNPedia
Factor XI deficiency
Is agenotype
Geno Mag Summary
(-;-) 5 Factor XI deficiency
(-;AC) 3 carrier of factor XI mutation
(AC;AC) 0 common/normal
(CA;CA) 0 common in clinvar

This is a genotype with recommended actions if clinically confirmed. In brief:

  • FXI deficiency is a bleeding disorder due to reduced plasma FXI levels; low FXI levels are typically seen in homozygotes or compound heterozygotes but partial deficiency may be seen in heterozygotes (i.e. carriers).
  • Patients with FXI deficiency should be assessed for the presence of other potentially confounding factors, such as low VWF levels and platelet dysfunction.
  • Women with factor XI deficiency are at risk for menorrhagia, bleeding during childbirth and miscarriage, as well as post-partum hemorrhage (PPH).
  • Management usually comprises treatment of traumatic bleeds and prevention of surgical or obstetric bleeding.
  • Advance treatment planning before invasive dental procedures is essential to prevent excessive bleeding.
  • Pregnancy in women with FXI deficiency requires specialized and individualized care provided collaboratively by an obstetrician, hematologist and anesthetist.
  • NSAID (nonsteroidal anti-inflammatory drugs) and aspirin use may be contraindicated in individuals with inherited bleeding disorders due to their anti-aggregation effect on platelet function.

The full ClinGen Actionability report about congenital factor XI deficiency can be found here.

Genetic counseling may be available to you through your health-care network. In the US, genetic counselors may be found via this webpage of the National Society of Genetic Counselors.