Effect of Prothrombotic Mutations on Factor Consumption in Children With Hemophilia
Introduction: In hemophilia A, factor activity usually correlates with clinical severity; however, there are patients with severe hemophilia who have bleeding less than expected. Aim: The aim of this study is to evaluate the impact of prothrombotic mutations on annual factor consumption in children...
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| Veröffentlicht in: | Clinical and applied thrombosis/hemostasis 2013-07, Vol.19 (4), p.445-448 |
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| creator | Tüten, Hamit Çam, Halit Özdemir, Nihal Bezgal, Fikret Buyru, Nur Zülfikar, Bülent Celkan, Tiraje |
| description | Introduction:
In hemophilia A, factor activity usually correlates with clinical severity; however, there are patients with severe hemophilia who have bleeding less than expected.
Aim:
The aim of this study is to evaluate the impact of prothrombotic mutations on annual factor consumption in children with hemophilia.
Methods:
Factor V Leiden (FVL) G1691A, Prothrombin (PT) G20210A and methylenetetrahydrofolate reductase (MTHFR) C677T and A128C mutations were evaluated in children with moderate–severe hemophilia A (n = 51) and controls (n = 25).
Results:
None of the cases and controls carried the FVL and PT G20210A in homozygous state. There was no difference in factor consumption between carriers of FVL, PT mutations, and noncarriers. Patients who were homozygous for MTHFR C677T were found to have increased factor consumption compared to noncarriers, and this was a negative association. No decrease in factor consumption was noted in patients with hemophilia having MTHFR A1298C mutation.
Conclusion:
We could not demonstrate a significant decrease in factor concentrate consumption in children with hemophilia having prothrombotic mutations. |
| doi_str_mv | 10.1177/1076029612438610 |
| format | Article |
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In hemophilia A, factor activity usually correlates with clinical severity; however, there are patients with severe hemophilia who have bleeding less than expected.
Aim:
The aim of this study is to evaluate the impact of prothrombotic mutations on annual factor consumption in children with hemophilia.
Methods:
Factor V Leiden (FVL) G1691A, Prothrombin (PT) G20210A and methylenetetrahydrofolate reductase (MTHFR) C677T and A128C mutations were evaluated in children with moderate–severe hemophilia A (n = 51) and controls (n = 25).
Results:
None of the cases and controls carried the FVL and PT G20210A in homozygous state. There was no difference in factor consumption between carriers of FVL, PT mutations, and noncarriers. Patients who were homozygous for MTHFR C677T were found to have increased factor consumption compared to noncarriers, and this was a negative association. No decrease in factor consumption was noted in patients with hemophilia having MTHFR A1298C mutation.
Conclusion:
We could not demonstrate a significant decrease in factor concentrate consumption in children with hemophilia having prothrombotic mutations.</description><identifier>ISSN: 1076-0296</identifier><identifier>EISSN: 1938-2723</identifier><identifier>DOI: 10.1177/1076029612438610</identifier><identifier>PMID: 22411997</identifier><language>eng</language><publisher>Los Angeles, CA: SAGE Publications</publisher><subject>Case-Control Studies ; Child ; Factor V - genetics ; Hemophilia ; Hemophilia A - blood ; Hemophilia A - genetics ; Humans ; Methylenetetrahydrofolate Reductase (NADPH2) - genetics ; Mutation ; Prothrombin - genetics ; Retrospective Studies</subject><ispartof>Clinical and applied thrombosis/hemostasis, 2013-07, Vol.19 (4), p.445-448</ispartof><rights>The Author(s) 2012</rights><rights>The Author(s) 2012. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the associated terms available at: https://uk.sagepub.com/en-gb/eur/reusing-open-access-and-sage-choice-content</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c365t-8e8009ef470999e061813a30a385f36be7c2486066b2f8f407cf8bc6b9eb366f3</citedby><cites>FETCH-LOGICAL-c365t-8e8009ef470999e061813a30a385f36be7c2486066b2f8f407cf8bc6b9eb366f3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://journals.sagepub.com/doi/pdf/10.1177/1076029612438610$$EPDF$$P50$$Gsage$$H</linktopdf><linktohtml>$$Uhttps://journals.sagepub.com/doi/10.1177/1076029612438610$$EHTML$$P50$$Gsage$$H</linktohtml><link.rule.ids>314,776,780,21945,27830,27901,27902,44921,45309</link.rule.ids><linktorsrc>$$Uhttps://journals.sagepub.com/doi/full/10.1177/1076029612438610?utm_source=summon&utm_medium=discovery-provider$$EView_record_in_SAGE_Publications$$FView_record_in_$$GSAGE_Publications</linktorsrc><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/22411997$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Tüten, Hamit</creatorcontrib><creatorcontrib>Çam, Halit</creatorcontrib><creatorcontrib>Özdemir, Nihal</creatorcontrib><creatorcontrib>Bezgal, Fikret</creatorcontrib><creatorcontrib>Buyru, Nur</creatorcontrib><creatorcontrib>Zülfikar, Bülent</creatorcontrib><creatorcontrib>Celkan, Tiraje</creatorcontrib><title>Effect of Prothrombotic Mutations on Factor Consumption in Children With Hemophilia</title><title>Clinical and applied thrombosis/hemostasis</title><addtitle>Clin Appl Thromb Hemost</addtitle><description>Introduction:
In hemophilia A, factor activity usually correlates with clinical severity; however, there are patients with severe hemophilia who have bleeding less than expected.
Aim:
The aim of this study is to evaluate the impact of prothrombotic mutations on annual factor consumption in children with hemophilia.
Methods:
Factor V Leiden (FVL) G1691A, Prothrombin (PT) G20210A and methylenetetrahydrofolate reductase (MTHFR) C677T and A128C mutations were evaluated in children with moderate–severe hemophilia A (n = 51) and controls (n = 25).
Results:
None of the cases and controls carried the FVL and PT G20210A in homozygous state. There was no difference in factor consumption between carriers of FVL, PT mutations, and noncarriers. Patients who were homozygous for MTHFR C677T were found to have increased factor consumption compared to noncarriers, and this was a negative association. No decrease in factor consumption was noted in patients with hemophilia having MTHFR A1298C mutation.
Conclusion:
We could not demonstrate a significant decrease in factor concentrate consumption in children with hemophilia having prothrombotic mutations.</description><subject>Case-Control Studies</subject><subject>Child</subject><subject>Factor V - genetics</subject><subject>Hemophilia</subject><subject>Hemophilia A - blood</subject><subject>Hemophilia A - genetics</subject><subject>Humans</subject><subject>Methylenetetrahydrofolate Reductase (NADPH2) - genetics</subject><subject>Mutation</subject><subject>Prothrombin - genetics</subject><subject>Retrospective Studies</subject><issn>1076-0296</issn><issn>1938-2723</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2013</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>BENPR</sourceid><recordid>eNp1kM1LwzAYxoMobk7vniTgxUs1X0uTo5TNCRMFFY8lzRLX0TY1SQ_-92ZsKgie3q_f-7wvDwDnGF1jnOc3GOUcEckxYVRwjA7AGEsqMpITepjyNM628xE4CWGDEJZc8mMwIoRhLGU-Bs8za42O0Fn45F1ce9dWLtYaPgxRxdp1AboOzpWOzsMilUPbb9uw7mCxrpuVNx18q-MaLkzr-tSp1Sk4sqoJ5mwfJ-B1PnspFtny8e6-uF1mmvJpzIQRCEljWY6klAZxLDBVFCkqppbyyuSaMMER5xWxwjKUaysqzStpKsq5pRNwtdPtvfsYTIhlWwdtmkZ1xg2hxFQKRqfpSEIv_6AbN_gufVcSyhgWTFCRKLSjtHcheGPL3tet8p8lRuXW8PKv4WnlYi88VK1Z_Sx8O5yAbAcE9W5-r_4r-AXYo4ZJ</recordid><startdate>201307</startdate><enddate>201307</enddate><creator>Tüten, Hamit</creator><creator>Çam, Halit</creator><creator>Özdemir, Nihal</creator><creator>Bezgal, Fikret</creator><creator>Buyru, Nur</creator><creator>Zülfikar, Bülent</creator><creator>Celkan, Tiraje</creator><general>SAGE Publications</general><general>SAGE PUBLICATIONS, INC</general><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>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>K9.</scope><scope>M0S</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>7X8</scope></search><sort><creationdate>201307</creationdate><title>Effect of Prothrombotic Mutations on Factor Consumption in Children With Hemophilia</title><author>Tüten, Hamit ; Çam, Halit ; Özdemir, Nihal ; Bezgal, Fikret ; Buyru, Nur ; Zülfikar, Bülent ; Celkan, Tiraje</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c365t-8e8009ef470999e061813a30a385f36be7c2486066b2f8f407cf8bc6b9eb366f3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2013</creationdate><topic>Case-Control Studies</topic><topic>Child</topic><topic>Factor V - genetics</topic><topic>Hemophilia</topic><topic>Hemophilia A - blood</topic><topic>Hemophilia A - genetics</topic><topic>Humans</topic><topic>Methylenetetrahydrofolate Reductase (NADPH2) - genetics</topic><topic>Mutation</topic><topic>Prothrombin - genetics</topic><topic>Retrospective Studies</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Tüten, Hamit</creatorcontrib><creatorcontrib>Çam, Halit</creatorcontrib><creatorcontrib>Özdemir, Nihal</creatorcontrib><creatorcontrib>Bezgal, Fikret</creatorcontrib><creatorcontrib>Buyru, Nur</creatorcontrib><creatorcontrib>Zülfikar, Bülent</creatorcontrib><creatorcontrib>Celkan, Tiraje</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>ProQuest Central</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Publicly Available Content Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>MEDLINE - Academic</collection><jtitle>Clinical and applied thrombosis/hemostasis</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext_linktorsrc</fulltext></delivery><addata><au>Tüten, Hamit</au><au>Çam, Halit</au><au>Özdemir, Nihal</au><au>Bezgal, Fikret</au><au>Buyru, Nur</au><au>Zülfikar, Bülent</au><au>Celkan, Tiraje</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Effect of Prothrombotic Mutations on Factor Consumption in Children With Hemophilia</atitle><jtitle>Clinical and applied thrombosis/hemostasis</jtitle><addtitle>Clin Appl Thromb Hemost</addtitle><date>2013-07</date><risdate>2013</risdate><volume>19</volume><issue>4</issue><spage>445</spage><epage>448</epage><pages>445-448</pages><issn>1076-0296</issn><eissn>1938-2723</eissn><abstract>Introduction:
In hemophilia A, factor activity usually correlates with clinical severity; however, there are patients with severe hemophilia who have bleeding less than expected.
Aim:
The aim of this study is to evaluate the impact of prothrombotic mutations on annual factor consumption in children with hemophilia.
Methods:
Factor V Leiden (FVL) G1691A, Prothrombin (PT) G20210A and methylenetetrahydrofolate reductase (MTHFR) C677T and A128C mutations were evaluated in children with moderate–severe hemophilia A (n = 51) and controls (n = 25).
Results:
None of the cases and controls carried the FVL and PT G20210A in homozygous state. There was no difference in factor consumption between carriers of FVL, PT mutations, and noncarriers. Patients who were homozygous for MTHFR C677T were found to have increased factor consumption compared to noncarriers, and this was a negative association. No decrease in factor consumption was noted in patients with hemophilia having MTHFR A1298C mutation.
Conclusion:
We could not demonstrate a significant decrease in factor concentrate consumption in children with hemophilia having prothrombotic mutations.</abstract><cop>Los Angeles, CA</cop><pub>SAGE Publications</pub><pmid>22411997</pmid><doi>10.1177/1076029612438610</doi><tpages>4</tpages><oa>free_for_read</oa></addata></record> |
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| ispartof | Clinical and applied thrombosis/hemostasis, 2013-07, Vol.19 (4), p.445-448 |
| issn | 1076-0296 1938-2723 |
| language | eng |
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| source | Sage Journals GOLD Open Access 2024 |
| subjects | Case-Control Studies Child Factor V - genetics Hemophilia Hemophilia A - blood Hemophilia A - genetics Humans Methylenetetrahydrofolate Reductase (NADPH2) - genetics Mutation Prothrombin - genetics Retrospective Studies |
| title | Effect of Prothrombotic Mutations on Factor Consumption in Children With Hemophilia |
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