Coagulation factor XIII deficiency – Report of a newborn F13A1 Val34Leu polymorphism carrier

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.

Keywords

• f13a1 val34leu
• polymorphism
• recurrent pregnancy loss
• prolonged umbilical cord bleeding
• intracranial hemorrhage