Fibrinogen St. Louis: a new inherited fibrinogen variant, coincidentally associated with hemophilia A
A patient with classical hemophilia (factor VIII deficiency) was found to have a new abnormal fibrinogen (fibrinogen St. Louis). Other family members exhibited either defect alone. Fibrinogen St. Louis was inherited as an autosomal dominant and was not associated with clinical bleeding. When compare...
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| Veröffentlicht in: | The Journal of clinical investigation 1972-03, Vol.51 (3), p.590-597 |
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| creator | Sherman, L A Gaston, L W Kaplan, M E Spivack, A R |
| description | A patient with classical hemophilia (factor VIII deficiency) was found to have a new abnormal fibrinogen (fibrinogen St. Louis). Other family members exhibited either defect alone. Fibrinogen St. Louis was inherited as an autosomal dominant and was not associated with clinical bleeding. When compared with normal fibrinogen, fibrinogen St. Louis was found to have defective fibrin polymerization and possibly a slower release of fibrinopeptides. The prolonged thrombin times were partially corrected by calcium chloride and protamine sulfate. Ultracentrifugal sedimentation, electrophoretic mobility, DEAE chromatographic pattern, carbohydrate content, N-terminal amino acids, immunodiffusion, and immunoelectrophoretic patterns and electrophoresis of reduced and alkylated fragments were all normal. In contrast to fibrinogen St. Louis, the most similar other fibrinogen variant (fibrinogen Zurich) was found to be heterogeneous by several criteria and to have reduced hexose content. |
| doi_str_mv | 10.1172/JCI106848 |
| format | Article |
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Other family members exhibited either defect alone. Fibrinogen St. Louis was inherited as an autosomal dominant and was not associated with clinical bleeding. When compared with normal fibrinogen, fibrinogen St. Louis was found to have defective fibrin polymerization and possibly a slower release of fibrinopeptides. The prolonged thrombin times were partially corrected by calcium chloride and protamine sulfate. Ultracentrifugal sedimentation, electrophoretic mobility, DEAE chromatographic pattern, carbohydrate content, N-terminal amino acids, immunodiffusion, and immunoelectrophoretic patterns and electrophoresis of reduced and alkylated fragments were all normal. In contrast to fibrinogen St. Louis, the most similar other fibrinogen variant (fibrinogen Zurich) was found to be heterogeneous by several criteria and to have reduced hexose content.</description><identifier>ISSN: 0021-9738</identifier><identifier>DOI: 10.1172/JCI106848</identifier><identifier>PMID: 4622105</identifier><language>eng</language><publisher>United States</publisher><subject>Adult ; Amino Acids - analysis ; Blood Coagulation - drug effects ; Blood Coagulation Factors - analysis ; Blood Coagulation Tests ; Blood Protein Electrophoresis ; Calcium Chloride - pharmacology ; Carbohydrates - analysis ; Chromatography, DEAE-Cellulose ; Clot Retraction ; Factor VIII ; Female ; Fibrin - analysis ; Fibrinogen - analysis ; Hemophilia A - blood ; Hemophilia A - complications ; Hemophilia A - genetics ; Humans ; Hydrogen-Ion Concentration ; Immunodiffusion ; Immunoelectrophoresis ; Male ; Middle Aged ; Pedigree ; Peptides - analysis ; Platelet Adhesiveness ; Protamines - pharmacology ; Prothrombin Time ; Ultracentrifugation</subject><ispartof>The Journal of clinical investigation, 1972-03, Vol.51 (3), p.590-597</ispartof><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c369t-23855b3670bcbb69e99b0d55db002c0de4134dec7515f51dd177d3e99364638d3</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC302165/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC302165/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,314,727,780,784,885,27924,27925,53791,53793</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/4622105$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Sherman, L A</creatorcontrib><creatorcontrib>Gaston, L W</creatorcontrib><creatorcontrib>Kaplan, M E</creatorcontrib><creatorcontrib>Spivack, A R</creatorcontrib><title>Fibrinogen St. Louis: a new inherited fibrinogen variant, coincidentally associated with hemophilia A</title><title>The Journal of clinical investigation</title><addtitle>J Clin Invest</addtitle><description>A patient with classical hemophilia (factor VIII deficiency) was found to have a new abnormal fibrinogen (fibrinogen St. Louis). Other family members exhibited either defect alone. Fibrinogen St. Louis was inherited as an autosomal dominant and was not associated with clinical bleeding. When compared with normal fibrinogen, fibrinogen St. Louis was found to have defective fibrin polymerization and possibly a slower release of fibrinopeptides. The prolonged thrombin times were partially corrected by calcium chloride and protamine sulfate. Ultracentrifugal sedimentation, electrophoretic mobility, DEAE chromatographic pattern, carbohydrate content, N-terminal amino acids, immunodiffusion, and immunoelectrophoretic patterns and electrophoresis of reduced and alkylated fragments were all normal. In contrast to fibrinogen St. Louis, the most similar other fibrinogen variant (fibrinogen Zurich) was found to be heterogeneous by several criteria and to have reduced hexose content.</description><subject>Adult</subject><subject>Amino Acids - analysis</subject><subject>Blood Coagulation - drug effects</subject><subject>Blood Coagulation Factors - analysis</subject><subject>Blood Coagulation Tests</subject><subject>Blood Protein Electrophoresis</subject><subject>Calcium Chloride - pharmacology</subject><subject>Carbohydrates - analysis</subject><subject>Chromatography, DEAE-Cellulose</subject><subject>Clot Retraction</subject><subject>Factor VIII</subject><subject>Female</subject><subject>Fibrin - analysis</subject><subject>Fibrinogen - analysis</subject><subject>Hemophilia A - blood</subject><subject>Hemophilia A - complications</subject><subject>Hemophilia A - genetics</subject><subject>Humans</subject><subject>Hydrogen-Ion Concentration</subject><subject>Immunodiffusion</subject><subject>Immunoelectrophoresis</subject><subject>Male</subject><subject>Middle Aged</subject><subject>Pedigree</subject><subject>Peptides - analysis</subject><subject>Platelet Adhesiveness</subject><subject>Protamines - pharmacology</subject><subject>Prothrombin Time</subject><subject>Ultracentrifugation</subject><issn>0021-9738</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1972</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpVkU9PAjEQxXvQIKIHP4BJTyYmgu32z-6aeCBEFEPiQT033bbL1uy22C4Qvr1LIKinOczvzbyZB8AVRiOM0-T-dTLDiGc0OwF9hBI8zFOSnYHzGL8QwpQy2gM9ypMEI9YHZmqLYJ1fGAff2xGc-5WND1BCZzbQusoE2xoNy19qLYOVrr2DylunrDaulXW9hTJGr6zc0RvbVrAyjV9WtrYSji_AaSnraC4PdQA-p08fk5fh_O15NhnPh4rwvB0mJGOsIDxFhSoKnps8L5BmTBfdIQppQzGh2qiUYVYyrDVOU006inDKSabJADzu5y5XRWO06rwFWYtlsI0MW-GlFf87zlZi4deCdI_irNPfHPTBf69MbEVjozJ1LZ3xqygyTBHhGerA2z2ogo8xmPK4AyOxi0EcY-jY67-mjuQhA_IDX12GEA</recordid><startdate>19720301</startdate><enddate>19720301</enddate><creator>Sherman, L A</creator><creator>Gaston, L W</creator><creator>Kaplan, M E</creator><creator>Spivack, A R</creator><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>19720301</creationdate><title>Fibrinogen St. Louis: a new inherited fibrinogen variant, coincidentally associated with hemophilia A</title><author>Sherman, L A ; Gaston, L W ; Kaplan, M E ; Spivack, A R</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c369t-23855b3670bcbb69e99b0d55db002c0de4134dec7515f51dd177d3e99364638d3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1972</creationdate><topic>Adult</topic><topic>Amino Acids - analysis</topic><topic>Blood Coagulation - drug effects</topic><topic>Blood Coagulation Factors - analysis</topic><topic>Blood Coagulation Tests</topic><topic>Blood Protein Electrophoresis</topic><topic>Calcium Chloride - pharmacology</topic><topic>Carbohydrates - analysis</topic><topic>Chromatography, DEAE-Cellulose</topic><topic>Clot Retraction</topic><topic>Factor VIII</topic><topic>Female</topic><topic>Fibrin - analysis</topic><topic>Fibrinogen - analysis</topic><topic>Hemophilia A - blood</topic><topic>Hemophilia A - complications</topic><topic>Hemophilia A - genetics</topic><topic>Humans</topic><topic>Hydrogen-Ion Concentration</topic><topic>Immunodiffusion</topic><topic>Immunoelectrophoresis</topic><topic>Male</topic><topic>Middle Aged</topic><topic>Pedigree</topic><topic>Peptides - analysis</topic><topic>Platelet Adhesiveness</topic><topic>Protamines - pharmacology</topic><topic>Prothrombin Time</topic><topic>Ultracentrifugation</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Sherman, L A</creatorcontrib><creatorcontrib>Gaston, L W</creatorcontrib><creatorcontrib>Kaplan, M E</creatorcontrib><creatorcontrib>Spivack, A R</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>The Journal of clinical investigation</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Sherman, L A</au><au>Gaston, L W</au><au>Kaplan, M E</au><au>Spivack, A R</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Fibrinogen St. Louis: a new inherited fibrinogen variant, coincidentally associated with hemophilia A</atitle><jtitle>The Journal of clinical investigation</jtitle><addtitle>J Clin Invest</addtitle><date>1972-03-01</date><risdate>1972</risdate><volume>51</volume><issue>3</issue><spage>590</spage><epage>597</epage><pages>590-597</pages><issn>0021-9738</issn><abstract>A patient with classical hemophilia (factor VIII deficiency) was found to have a new abnormal fibrinogen (fibrinogen St. Louis). Other family members exhibited either defect alone. Fibrinogen St. Louis was inherited as an autosomal dominant and was not associated with clinical bleeding. When compared with normal fibrinogen, fibrinogen St. Louis was found to have defective fibrin polymerization and possibly a slower release of fibrinopeptides. The prolonged thrombin times were partially corrected by calcium chloride and protamine sulfate. Ultracentrifugal sedimentation, electrophoretic mobility, DEAE chromatographic pattern, carbohydrate content, N-terminal amino acids, immunodiffusion, and immunoelectrophoretic patterns and electrophoresis of reduced and alkylated fragments were all normal. In contrast to fibrinogen St. Louis, the most similar other fibrinogen variant (fibrinogen Zurich) was found to be heterogeneous by several criteria and to have reduced hexose content.</abstract><cop>United States</cop><pmid>4622105</pmid><doi>10.1172/JCI106848</doi><tpages>8</tpages><oa>free_for_read</oa></addata></record> |
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| source | MEDLINE; EZB-FREE-00999 freely available EZB journals; PubMed Central; Alma/SFX Local Collection |
| subjects | Adult Amino Acids - analysis Blood Coagulation - drug effects Blood Coagulation Factors - analysis Blood Coagulation Tests Blood Protein Electrophoresis Calcium Chloride - pharmacology Carbohydrates - analysis Chromatography, DEAE-Cellulose Clot Retraction Factor VIII Female Fibrin - analysis Fibrinogen - analysis Hemophilia A - blood Hemophilia A - complications Hemophilia A - genetics Humans Hydrogen-Ion Concentration Immunodiffusion Immunoelectrophoresis Male Middle Aged Pedigree Peptides - analysis Platelet Adhesiveness Protamines - pharmacology Prothrombin Time Ultracentrifugation |
| title | Fibrinogen St. Louis: a new inherited fibrinogen variant, coincidentally associated with hemophilia A |
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