Postmortem diagnosis of severe factor X deficiency in a fetus with intracranial hemorrhage resulting in intrauterine death

In patients with severe congenital factor X deficiency, spontaneous intracranial hemorrhage (ICH) is particularly frequent in early childhood. We describe a case of fetal death at 26 weeks due to massive ICH. Gene panel analysis of postmortem samples revealed homozygosity for a pathologic F10 gene v...

Full description

Saved in:
Bibliographic Details
Published in:Journal of thrombosis and haemostasis : JTH 2023, Vol.21 (12), p.3501-3507
Main Authors: Krumb, Evelien, Mehta, Nishita, Hutchinson, Ciaran, Jradeh, Bilal, Jaslowska, Ewa, Gomez, Keith, Abdul-Kadir, Rezan
Format: Report
Language:English
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
cited_by
cites
container_end_page 3507
container_issue 12
container_start_page 3501
container_title Journal of thrombosis and haemostasis : JTH
container_volume 21
creator Krumb, Evelien
Mehta, Nishita
Hutchinson, Ciaran
Jradeh, Bilal
Jaslowska, Ewa
Gomez, Keith
Abdul-Kadir, Rezan
description In patients with severe congenital factor X deficiency, spontaneous intracranial hemorrhage (ICH) is particularly frequent in early childhood. We describe a case of fetal death at 26 weeks due to massive ICH. Gene panel analysis of postmortem samples revealed homozygosity for a pathologic 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. To the best of our knowledge, this is the first reported case of severe FX deficiency resulting in ICH diagnosed through postmortem genetic analysis. It illustrates the importance of exploring the etiology of fetal or neonatal ICH, which may impact future pregnancies, and the treatment of a potential coagulopathy in the child.
doi_str_mv 10.1016/j.jtha.2023.08.027
format report
fullrecord <record><control><sourceid>proquest</sourceid><recordid>TN_cdi_proquest_miscellaneous_2863297855</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>2863297855</sourcerecordid><originalsourceid>FETCH-proquest_miscellaneous_28632978553</originalsourceid><addsrcrecordid>eNqVjLtOxDAQRS0kpF0eP7DVlDQbHFt5bI1AlBQUdKtRdhw7SmzwjEHw9QTED1BdXemco9Su1lWt6_Z2qibxWBltbKX7SpvuTG3rxvb7rrftRl0wT1rXh8borfp6SixLykILnAKOMXFgSA6Y3ikTOBwkZXiBE7kwBIrDJ4QICI6kMHwE8euXjEPGGHAGT2stexwJMnGZJcTxx_iFilAOkdYYir9S5w5npuu_vVQ3D_fPd4_715zeCrEcl8ADzTNGSoWPpm-tOXR909h_oN_5pVlx</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>report</recordtype><pqid>2863297855</pqid></control><display><type>report</type><title>Postmortem diagnosis of severe factor X deficiency in a fetus with intracranial hemorrhage resulting in intrauterine death</title><source>EZB Electronic Journals Library</source><creator>Krumb, Evelien ; Mehta, Nishita ; Hutchinson, Ciaran ; Jradeh, Bilal ; Jaslowska, Ewa ; Gomez, Keith ; Abdul-Kadir, Rezan</creator><creatorcontrib>Krumb, Evelien ; Mehta, Nishita ; Hutchinson, Ciaran ; Jradeh, Bilal ; Jaslowska, Ewa ; Gomez, Keith ; Abdul-Kadir, Rezan</creatorcontrib><description>In patients with severe congenital factor X deficiency, spontaneous intracranial hemorrhage (ICH) is particularly frequent in early childhood. We describe a case of fetal death at 26 weeks due to massive ICH. Gene panel analysis of postmortem samples revealed homozygosity for a pathologic F10 gene variant (c.1210T&gt;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. To the best of our knowledge, this is the first reported case of severe FX deficiency resulting in ICH diagnosed through postmortem genetic analysis. It illustrates the importance of exploring the etiology of fetal or neonatal ICH, which may impact future pregnancies, and the treatment of a potential coagulopathy in the child.</description><identifier>EISSN: 1538-7836</identifier><identifier>DOI: 10.1016/j.jtha.2023.08.027</identifier><language>eng</language><ispartof>Journal of thrombosis and haemostasis : JTH, 2023, Vol.21 (12), p.3501-3507</ispartof><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>780,784,4490,27925</link.rule.ids></links><search><creatorcontrib>Krumb, Evelien</creatorcontrib><creatorcontrib>Mehta, Nishita</creatorcontrib><creatorcontrib>Hutchinson, Ciaran</creatorcontrib><creatorcontrib>Jradeh, Bilal</creatorcontrib><creatorcontrib>Jaslowska, Ewa</creatorcontrib><creatorcontrib>Gomez, Keith</creatorcontrib><creatorcontrib>Abdul-Kadir, Rezan</creatorcontrib><title>Postmortem diagnosis of severe factor X deficiency in a fetus with intracranial hemorrhage resulting in intrauterine death</title><title>Journal of thrombosis and haemostasis : JTH</title><description>In patients with severe congenital factor X deficiency, spontaneous intracranial hemorrhage (ICH) is particularly frequent in early childhood. We describe a case of fetal death at 26 weeks due to massive ICH. Gene panel analysis of postmortem samples revealed homozygosity for a pathologic F10 gene variant (c.1210T&gt;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. To the best of our knowledge, this is the first reported case of severe FX deficiency resulting in ICH diagnosed through postmortem genetic analysis. It illustrates the importance of exploring the etiology of fetal or neonatal ICH, which may impact future pregnancies, and the treatment of a potential coagulopathy in the child.</description><issn>1538-7836</issn><fulltext>true</fulltext><rsrctype>report</rsrctype><creationdate>2023</creationdate><recordtype>report</recordtype><recordid>eNqVjLtOxDAQRS0kpF0eP7DVlDQbHFt5bI1AlBQUdKtRdhw7SmzwjEHw9QTED1BdXemco9Su1lWt6_Z2qibxWBltbKX7SpvuTG3rxvb7rrftRl0wT1rXh8borfp6SixLykILnAKOMXFgSA6Y3ikTOBwkZXiBE7kwBIrDJ4QICI6kMHwE8euXjEPGGHAGT2stexwJMnGZJcTxx_iFilAOkdYYir9S5w5npuu_vVQ3D_fPd4_715zeCrEcl8ADzTNGSoWPpm-tOXR909h_oN_5pVlx</recordid><startdate>20231201</startdate><enddate>20231201</enddate><creator>Krumb, Evelien</creator><creator>Mehta, Nishita</creator><creator>Hutchinson, Ciaran</creator><creator>Jradeh, Bilal</creator><creator>Jaslowska, Ewa</creator><creator>Gomez, Keith</creator><creator>Abdul-Kadir, Rezan</creator><scope>7X8</scope></search><sort><creationdate>20231201</creationdate><title>Postmortem diagnosis of severe factor X deficiency in a fetus with intracranial hemorrhage resulting in intrauterine death</title><author>Krumb, Evelien ; Mehta, Nishita ; Hutchinson, Ciaran ; Jradeh, Bilal ; Jaslowska, Ewa ; Gomez, Keith ; Abdul-Kadir, Rezan</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-proquest_miscellaneous_28632978553</frbrgroupid><rsrctype>reports</rsrctype><prefilter>reports</prefilter><language>eng</language><creationdate>2023</creationdate><toplevel>online_resources</toplevel><creatorcontrib>Krumb, Evelien</creatorcontrib><creatorcontrib>Mehta, Nishita</creatorcontrib><creatorcontrib>Hutchinson, Ciaran</creatorcontrib><creatorcontrib>Jradeh, Bilal</creatorcontrib><creatorcontrib>Jaslowska, Ewa</creatorcontrib><creatorcontrib>Gomez, Keith</creatorcontrib><creatorcontrib>Abdul-Kadir, Rezan</creatorcontrib><collection>MEDLINE - Academic</collection></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Krumb, Evelien</au><au>Mehta, Nishita</au><au>Hutchinson, Ciaran</au><au>Jradeh, Bilal</au><au>Jaslowska, Ewa</au><au>Gomez, Keith</au><au>Abdul-Kadir, Rezan</au><format>book</format><genre>unknown</genre><ristype>RPRT</ristype><atitle>Postmortem diagnosis of severe factor X deficiency in a fetus with intracranial hemorrhage resulting in intrauterine death</atitle><jtitle>Journal of thrombosis and haemostasis : JTH</jtitle><date>2023-12-01</date><risdate>2023</risdate><volume>21</volume><issue>12</issue><spage>3501</spage><epage>3507</epage><pages>3501-3507</pages><eissn>1538-7836</eissn><abstract>In patients with severe congenital factor X deficiency, spontaneous intracranial hemorrhage (ICH) is particularly frequent in early childhood. We describe a case of fetal death at 26 weeks due to massive ICH. Gene panel analysis of postmortem samples revealed homozygosity for a pathologic F10 gene variant (c.1210T&gt;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. To the best of our knowledge, this is the first reported case of severe FX deficiency resulting in ICH diagnosed through postmortem genetic analysis. It illustrates the importance of exploring the etiology of fetal or neonatal ICH, which may impact future pregnancies, and the treatment of a potential coagulopathy in the child.</abstract><doi>10.1016/j.jtha.2023.08.027</doi></addata></record>
fulltext fulltext
identifier EISSN: 1538-7836
ispartof Journal of thrombosis and haemostasis : JTH, 2023, Vol.21 (12), p.3501-3507
issn 1538-7836
language eng
recordid cdi_proquest_miscellaneous_2863297855
source EZB Electronic Journals Library
title Postmortem diagnosis of severe factor X deficiency in a fetus with intracranial hemorrhage resulting in intrauterine death
url http://sfxeu10.hosted.exlibrisgroup.com/loughborough?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-07T14%3A04%3A15IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest&rft_val_fmt=info:ofi/fmt:kev:mtx:book&rft.genre=unknown&rft.atitle=Postmortem%20diagnosis%20of%20severe%20factor%20X%20deficiency%20in%20a%20fetus%20with%20intracranial%20hemorrhage%20resulting%20in%20intrauterine%20death&rft.jtitle=Journal%20of%20thrombosis%20and%20haemostasis%20:%20JTH&rft.au=Krumb,%20Evelien&rft.date=2023-12-01&rft.volume=21&rft.issue=12&rft.spage=3501&rft.epage=3507&rft.pages=3501-3507&rft.eissn=1538-7836&rft_id=info:doi/10.1016/j.jtha.2023.08.027&rft_dat=%3Cproquest%3E2863297855%3C/proquest%3E%3Cgrp_id%3Ecdi_FETCH-proquest_miscellaneous_28632978553%3C/grp_id%3E%3Coa%3E%3C/oa%3E%3Curl%3E%3C/url%3E&rft_id=info:oai/&rft_pqid=2863297855&rft_id=info:pmid/&rfr_iscdi=true