Coagulation factor XIII deficiency – Report of a newborn F13A1 Val34Leu polymorphism carrier
oleh: Georgios N. Katsaras, Dimitra Gialamprinou, Ilias Chatziioannidis, Paraskevi Karagianni, Georgios Mitsiakos
| Format: | Article |
|---|---|
| Diterbitkan: | Hygeia Press di Corridori Marinella 2022-10-01 |
Deskripsi
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.