Keywords
F13A1 Val34Leu
polymorphism
recurrent pregnancy loss
prolonged umbilical cord bleeding
intracranial hemorrhage
polymorphism
recurrent pregnancy loss
prolonged umbilical cord bleeding
intracranial hemorrhage
How to Cite
Katsaras, G. N., Gialamprinou, D., Chatziioannidis, I., Karagianni, P., & Mitsiakos, G. (2022). Coagulation factor XIII deficiency – Report of a newborn F13A1 Val34Leu polymorphism carrier. Journal of Pediatric and Neonatal Individualized Medicine (JPNIM), 11(2), e110238. https://doi.org/10.7363/110238
Abstract
Coagulation factor XIII deficiency (FXIIID) is a rare inherited autosomal recessive bleeding disorder. FXIIID is the only coagulation factor deficiency that has been associated with pregnancy loss. Regarding neonates, prolonged umbilical cord bleeding and intracranial hemorrhage, a life-threatening condition in the neonatal period, have been reported in cases with inherited FXIIID. In this report, we present a case of a newborn of a homozygous F13A1 Val34Leu variant mother, while reviewing the current literature.