Factor XIII (FXIII) deficiency can cause hemorrhaging in the brain among almost 30% of its sufferers and early detection has been a challenge. A research team recently explored clinical features and risk factors for complications of FXIII deficiency in neonates and presented their findings and recommendations in Blood Cells, Molecules and Diseases.
The researchers performed a retrospective, cross-sectional analysis of 27 neonatal patients in Iran who had experienced bleeding events and been diagnosed with FXIII deficiency, specifically involving the FXIII A-subunit (FXIII-A). According to the study authors, FXIII deficiency is 12-fold more common in Iran than throughout the world.
The researchers examined patient data, including demographic information, family history, method of birth delivery, clinical data, and imaging history. All patients received treatment with FXIII concentrate upon first bleeding event, followed by FXIII prophylaxis.
All 27 patients demonstrated umbilical cord bleeding. Evidence of central nervous system (CNS) bleeding was present in 13 patients (48.1%). Seizure and delayed umbilical stump separation each occurred in 5 patients (18.5% each). A total of 3 patients experienced hematoma, and 1 had ecchymosis.
Family history including suspicious FXIII deficiency-related deaths was present for 19 patients (70.3%), with FXIII-A deficiency present in the family histories of 18 patients (66.7%).
All patients showed a Trp187Arg mutation (exon 4, C.5559T>C) but no other FXIII deficiency-associated mutations.
History of CNS bleeding was not significantly associated with clinical presentation, familial FXIII deficiency history, birth delivery method, gender, or age. However, CNS bleeding did show a slightly significant relationship with the mean number of suspicious deaths related to FXIII deficiency in a patient’s family history (P =.05).
The researchers recommended conducting prenatal diagnostic testing to identify and manage FXIII deficiency in patients with a positive family history. They also developed an algorithm for initiating prophylaxis in newborns in order to prevent complications due to FXIII deficiency.
- Naderi M, Cohan N, Shahramian I, et al. A retrospective study on clinical manifestations of neonates with FXIII-A deficiency [published online April 11, 2019]. Blood Cells Mol Dis. doi:10.1016/j.bcmd.2019.04.006