Post-mortem diagnosis of severe factor X deficiency in a fetus with intracranial haemorrhage resulting in intrauterine death

We describe a case of fetal death at 26 weeks due to massive ICH. Gene panel analysis of post-mortem samples revealed homozygosity for a pathological F10 gene variant (c.1210T>C, p.Cys404Arg), which impedes correct folding of the catalytic serine protease domain and therefore causes a significant reduction in FX levels. The parents, not consanguineous but of the same ethnic community, were found to be heterozygous for this variant and did not have any personal or family history of abnormal bleeding. This is, to the best of our knowledge, the first reported case of severe FX deficiency resulting in ICH diagnosed through post-mortem genetic analysis. It illustrates the importance of exploring the aetiology of fetal or neonatal ICH, which may impact future pregnancies and treatment of a potential coagulopathy in the child.PMID:37678549 | DOI:10.1016/j.jtha.2023.08.027

Source: Thrombosis and Haemostasis - September 7, 2023 Category: Hematology Authors: Evelien Krumb Nishita Mehta Ciaran Hutchinson Bilal Jradeh Ewa Jaslowska Keith Gomez Rezan Abdul Kadir Source Type: research