Chapter 15 - Inherited coagulopathies

Summary

Hemophilia is characterized by a deficiency of factor VIII (hemophilia A) or factor IX (hemophilia B), both key components of the intrinsic pathway of the coagulation cascade. Women with low factor IX levels remain at risk of bleeding throughout pregnancy. The most significant potential complication for the neonate is intracranial hemorrhage (ICH), particularly following instrumental or traumatic birth. ICH is most often associated with extracranial hemorrhage (ECH) after trauma and any significant ECH in a newborn should raise the suspicion of underlying coagulopathy and ICH. Factor XI is an important component of the intrinsic coagulation pathway, playing a key role in the amplification of initial thrombin production, via activation of factor IX. The potential for thrombosis following factor replacement must be considered and attention given to simple thromboprophylactic measures such as adequate hydration, compression stockings, and early mobilization.