Fibrinogen Kaiserslautern III: A New Case of Congenital Dysfibrinogenemia with Aα 16 Arg → Cys Substitution

An abnormal fibrinogen was identified in a man with suspicious prolonged prothrombin time and a mild bleeding tendency. Coagulation studies showed marked prolonged thrombin and reptilase clotting times and a discrepancy between functional fibrinogen test and fibrinogen antigen. The rate of fibrinope...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Haemostasis 2001-01, Vol.31 (1), p.12-17
Hauptverfasser:	Loreth, R.M., Meyer, M., Albert, F.W.
Format:	Artikel
Sprache:	eng
Schlagworte:	Biological and medical sciences Hematologic and hematopoietic diseases Medical sciences Original Paper Platelet diseases and coagulopathies
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

container_end_page	17
container_issue	1
container_start_page	12
container_title	Haemostasis
container_volume	31
creator	Loreth, R.M. Meyer, M. Albert, F.W.
description	An abnormal fibrinogen was identified in a man with suspicious prolonged prothrombin time and a mild bleeding tendency. Coagulation studies showed marked prolonged thrombin and reptilase clotting times and a discrepancy between functional fibrinogen test and fibrinogen antigen. The rate of fibrinopeptide B release by thrombin was slightly delayed while the release of fibrinopeptide A was only half the normal amount. DNA sequencing revealed a heterozygous C to T point mutation in position 1202 of exon 2 of the Aα chain, resulting in the substitution of Arg → Cys at position 16, the thrombin cleavage site. This mutation was found also in his 2 children. Both had a mild bleeding tendency too.
doi_str_mv	10.1159/000048039
format	Article
fullrecord	<record><control><sourceid>pascalfrancis_karge</sourceid><recordid>TN_cdi_karger_primary_48039</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>1102762</sourcerecordid><originalsourceid>FETCH-LOGICAL-c298t-8d8cea70ba64d3b1265efa92fdf6419df150bdbb3e0aebe8ab324ce83dc917873</originalsourceid><addsrcrecordid>eNpt0LFOwzAQAFALgSgUBmYWC7EwBGzHTRy2KLQ0ooIBmKNzYhdDmlR2qqo_wAfwJ_wIH8GXEAgKC7fcSffuTjqEjig5p3QUXZA2uCB-tIX2KGfcE4KT7b722QDtO_dMSIsjfxcNKOVEhJzvoWpipDVVPVcVvgHjlHUlrBplK5ym6SWO8a1a4wScwrXGSV210DRQ4quN0_2oWhjAa9M84fjjHdMAx3aOP1_fcLJx-H4lXWOaVWPq6gDtaCidOvzNQ_Q4GT8kU292d50m8czLWSQaTxQiVxASCQEvfElZMFIaIqYLHXAaFZqOiCyk9BUBJZUA6TOeK-EXeURDEfpDdNbtzW3tnFU6W1qzALvJKMm-f5b1P2vtaWeX4HIotYUqN-5vgBIWBqxlJx17ATtXtu9P4_HPnmxZ6BYd_4u6S18C13_y</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype></control><display><type>article</type><title>Fibrinogen Kaiserslautern III: A New Case of Congenital Dysfibrinogenemia with Aα 16 Arg → Cys Substitution</title><source>Karger Journals Complete</source><creator>Loreth, R.M. ; Meyer, M. ; Albert, F.W.</creator><creatorcontrib>Loreth, R.M. ; Meyer, M. ; Albert, F.W.</creatorcontrib><description>An abnormal fibrinogen was identified in a man with suspicious prolonged prothrombin time and a mild bleeding tendency. Coagulation studies showed marked prolonged thrombin and reptilase clotting times and a discrepancy between functional fibrinogen test and fibrinogen antigen. The rate of fibrinopeptide B release by thrombin was slightly delayed while the release of fibrinopeptide A was only half the normal amount. DNA sequencing revealed a heterozygous C to T point mutation in position 1202 of exon 2 of the Aα chain, resulting in the substitution of Arg → Cys at position 16, the thrombin cleavage site. This mutation was found also in his 2 children. Both had a mild bleeding tendency too.</description><identifier>ISSN: 1424-8832</identifier><identifier>ISSN: 0301-0147</identifier><identifier>EISSN: 1424-8840</identifier><identifier>DOI: 10.1159/000048039</identifier><identifier>PMID: 11408744</identifier><identifier>CODEN: HMTSB7</identifier><language>eng</language><publisher>Basel, Switzerland: Karger</publisher><subject>Biological and medical sciences ; Hematologic and hematopoietic diseases ; Medical sciences ; Original Paper ; Platelet diseases and coagulopathies</subject><ispartof>Haemostasis, 2001-01, Vol.31 (1), p.12-17</ispartof><rights>2001 S. Karger AG, Basel</rights><rights>2001 INIST-CNRS</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,2429,4024,27923,27924,27925</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=1102762$$DView record in Pascal Francis$$Hfree_for_read</backlink></links><search><creatorcontrib>Loreth, R.M.</creatorcontrib><creatorcontrib>Meyer, M.</creatorcontrib><creatorcontrib>Albert, F.W.</creatorcontrib><title>Fibrinogen Kaiserslautern III: A New Case of Congenital Dysfibrinogenemia with Aα 16 Arg → Cys Substitution</title><title>Haemostasis</title><addtitle>Pathophysiol Haemos Thromb</addtitle><description>An abnormal fibrinogen was identified in a man with suspicious prolonged prothrombin time and a mild bleeding tendency. Coagulation studies showed marked prolonged thrombin and reptilase clotting times and a discrepancy between functional fibrinogen test and fibrinogen antigen. The rate of fibrinopeptide B release by thrombin was slightly delayed while the release of fibrinopeptide A was only half the normal amount. DNA sequencing revealed a heterozygous C to T point mutation in position 1202 of exon 2 of the Aα chain, resulting in the substitution of Arg → Cys at position 16, the thrombin cleavage site. This mutation was found also in his 2 children. Both had a mild bleeding tendency too.</description><subject>Biological and medical sciences</subject><subject>Hematologic and hematopoietic diseases</subject><subject>Medical sciences</subject><subject>Original Paper</subject><subject>Platelet diseases and coagulopathies</subject><issn>1424-8832</issn><issn>0301-0147</issn><issn>1424-8840</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2001</creationdate><recordtype>article</recordtype><recordid>eNpt0LFOwzAQAFALgSgUBmYWC7EwBGzHTRy2KLQ0ooIBmKNzYhdDmlR2qqo_wAfwJ_wIH8GXEAgKC7fcSffuTjqEjig5p3QUXZA2uCB-tIX2KGfcE4KT7b722QDtO_dMSIsjfxcNKOVEhJzvoWpipDVVPVcVvgHjlHUlrBplK5ym6SWO8a1a4wScwrXGSV210DRQ4quN0_2oWhjAa9M84fjjHdMAx3aOP1_fcLJx-H4lXWOaVWPq6gDtaCidOvzNQ_Q4GT8kU292d50m8czLWSQaTxQiVxASCQEvfElZMFIaIqYLHXAaFZqOiCyk9BUBJZUA6TOeK-EXeURDEfpDdNbtzW3tnFU6W1qzALvJKMm-f5b1P2vtaWeX4HIotYUqN-5vgBIWBqxlJx17ATtXtu9P4_HPnmxZ6BYd_4u6S18C13_y</recordid><startdate>200101</startdate><enddate>200101</enddate><creator>Loreth, R.M.</creator><creator>Meyer, M.</creator><creator>Albert, F.W.</creator><general>Karger</general><scope>IQODW</scope><scope>AAYXX</scope><scope>CITATION</scope></search><sort><creationdate>200101</creationdate><title>Fibrinogen Kaiserslautern III: A New Case of Congenital Dysfibrinogenemia with Aα 16 Arg → Cys Substitution</title><author>Loreth, R.M. ; Meyer, M. ; Albert, F.W.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c298t-8d8cea70ba64d3b1265efa92fdf6419df150bdbb3e0aebe8ab324ce83dc917873</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2001</creationdate><topic>Biological and medical sciences</topic><topic>Hematologic and hematopoietic diseases</topic><topic>Medical sciences</topic><topic>Original Paper</topic><topic>Platelet diseases and coagulopathies</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Loreth, R.M.</creatorcontrib><creatorcontrib>Meyer, M.</creatorcontrib><creatorcontrib>Albert, F.W.</creatorcontrib><collection>Pascal-Francis</collection><collection>CrossRef</collection><jtitle>Haemostasis</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Loreth, R.M.</au><au>Meyer, M.</au><au>Albert, F.W.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Fibrinogen Kaiserslautern III: A New Case of Congenital Dysfibrinogenemia with Aα 16 Arg → Cys Substitution</atitle><jtitle>Haemostasis</jtitle><addtitle>Pathophysiol Haemos Thromb</addtitle><date>2001-01</date><risdate>2001</risdate><volume>31</volume><issue>1</issue><spage>12</spage><epage>17</epage><pages>12-17</pages><issn>1424-8832</issn><issn>0301-0147</issn><eissn>1424-8840</eissn><coden>HMTSB7</coden><abstract>An abnormal fibrinogen was identified in a man with suspicious prolonged prothrombin time and a mild bleeding tendency. Coagulation studies showed marked prolonged thrombin and reptilase clotting times and a discrepancy between functional fibrinogen test and fibrinogen antigen. The rate of fibrinopeptide B release by thrombin was slightly delayed while the release of fibrinopeptide A was only half the normal amount. DNA sequencing revealed a heterozygous C to T point mutation in position 1202 of exon 2 of the Aα chain, resulting in the substitution of Arg → Cys at position 16, the thrombin cleavage site. This mutation was found also in his 2 children. Both had a mild bleeding tendency too.</abstract><cop>Basel, Switzerland</cop><pub>Karger</pub><pmid>11408744</pmid><doi>10.1159/000048039</doi><tpages>6</tpages><oa>free_for_read</oa></addata></record>
fulltext	fulltext
identifier	ISSN: 1424-8832
ispartof	Haemostasis, 2001-01, Vol.31 (1), p.12-17
issn	1424-8832 0301-0147 1424-8840
language	eng
recordid	cdi_karger_primary_48039
source	Karger Journals Complete
subjects	Biological and medical sciences Hematologic and hematopoietic diseases Medical sciences Original Paper Platelet diseases and coagulopathies
title	Fibrinogen Kaiserslautern III: A New Case of Congenital Dysfibrinogenemia with Aα 16 Arg → Cys Substitution
url	https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2024-12-23T19%3A23%3A26IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-pascalfrancis_karge&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Fibrinogen%20Kaiserslautern%20III:%20A%20New%20Case%20of%20Congenital%20Dysfibrinogenemia%20with%20A%CE%B1%2016%20Arg%20%E2%86%92%20Cys%20Substitution&rft.jtitle=Haemostasis&rft.au=Loreth,%20R.M.&rft.date=2001-01&rft.volume=31&rft.issue=1&rft.spage=12&rft.epage=17&rft.pages=12-17&rft.issn=1424-8832&rft.eissn=1424-8840&rft.coden=HMTSB7&rft_id=info:doi/10.1159/000048039&rft_dat=%3Cpascalfrancis_karge%3E1102762%3C/pascalfrancis_karge%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_id=info:pmid/11408744&rfr_iscdi=true