Primary thrombophilia in México VII: the V617F mutation of JAK2 is not a frequent cause of thrombosis
The study of the V617F JAK2 gene mutation has been used to identify the presence of an underlying myeloproliferative disorder (MPD) as the cause of unexplained thrombosis. In a group of 77 consecutive Mexican patients with a clinical marker of a primary thrombophilic condition, we looked for this JA...
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| Veröffentlicht in: | Hematology (Luxembourg) 2008-08, Vol.13 (4), p.244-246 |
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| container_title | Hematology (Luxembourg) |
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| creator | Garcés-Eisele, Javier González-Carrillo, Martha L. Reyes-Núñez, Virginia Ruiz-Argüelles, Guillermo J. |
| description | The study of the V617F JAK2 gene mutation has been used to identify the presence of an underlying myeloproliferative disorder (MPD) as the cause of unexplained thrombosis. In a group of 77 consecutive Mexican patients with a clinical marker of a primary thrombophilic condition, we looked for this JAK2 mutation and did not find any individual displaying it. Given these results, we conclude that an undetected MPD is a very improbable cause of thromboses in Mexican mestizos, a population where the prevalence of these disorders has been found to be lower than that found in Caucasian populations. Accordingly, it seems that the investigation for the V617F mutation of the JAK2 gene is not mandatory in all Mexican mestizo patients with unexplained thrombophilia and that this genetic study should be reserved for special cases, such as patients with thrombosis in uncommon sites or patients with cell counts suggesting the presence of an underlying MPD. |
| doi_str_mv | 10.1179/102453308X316077 |
| format | Article |
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In a group of 77 consecutive Mexican patients with a clinical marker of a primary thrombophilic condition, we looked for this JAK2 mutation and did not find any individual displaying it. Given these results, we conclude that an undetected MPD is a very improbable cause of thromboses in Mexican mestizos, a population where the prevalence of these disorders has been found to be lower than that found in Caucasian populations. Accordingly, it seems that the investigation for the V617F mutation of the JAK2 gene is not mandatory in all Mexican mestizo patients with unexplained thrombophilia and that this genetic study should be reserved for special cases, such as patients with thrombosis in uncommon sites or patients with cell counts suggesting the presence of an underlying MPD.</description><identifier>ISSN: 1607-8454</identifier><identifier>EISSN: 1607-8454</identifier><identifier>DOI: 10.1179/102453308X316077</identifier><identifier>PMID: 18796251</identifier><language>eng</language><publisher>England: Taylor & Francis</publisher><subject>Adult ; Cohort Studies ; Female ; Humans ; JAK2 V617F MUTATION ; Janus Kinase 2 - genetics ; Male ; MEXICO ; Mutation ; Myeloproliferative Disorders - genetics ; Prevalence ; THROMBOPHILIA ; Thrombophilia - enzymology ; Thrombophilia - genetics ; Thrombosis - genetics</subject><ispartof>Hematology (Luxembourg), 2008-08, Vol.13 (4), p.244-246</ispartof><rights>2008 Maney Publishing 2008</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c349t-93de12f7483e117b8ee84a8b305ea72ebb8e37cad2d087b0dea8fba29b7a64db3</citedby><cites>FETCH-LOGICAL-c349t-93de12f7483e117b8ee84a8b305ea72ebb8e37cad2d087b0dea8fba29b7a64db3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27903,27904</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/18796251$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Garcés-Eisele, Javier</creatorcontrib><creatorcontrib>González-Carrillo, Martha L.</creatorcontrib><creatorcontrib>Reyes-Núñez, Virginia</creatorcontrib><creatorcontrib>Ruiz-Argüelles, Guillermo J.</creatorcontrib><title>Primary thrombophilia in México VII: the V617F mutation of JAK2 is not a frequent cause of thrombosis</title><title>Hematology (Luxembourg)</title><addtitle>Hematology</addtitle><description>The study of the V617F JAK2 gene mutation has been used to identify the presence of an underlying myeloproliferative disorder (MPD) as the cause of unexplained thrombosis. In a group of 77 consecutive Mexican patients with a clinical marker of a primary thrombophilic condition, we looked for this JAK2 mutation and did not find any individual displaying it. Given these results, we conclude that an undetected MPD is a very improbable cause of thromboses in Mexican mestizos, a population where the prevalence of these disorders has been found to be lower than that found in Caucasian populations. Accordingly, it seems that the investigation for the V617F mutation of the JAK2 gene is not mandatory in all Mexican mestizo patients with unexplained thrombophilia and that this genetic study should be reserved for special cases, such as patients with thrombosis in uncommon sites or patients with cell counts suggesting the presence of an underlying MPD.</description><subject>Adult</subject><subject>Cohort Studies</subject><subject>Female</subject><subject>Humans</subject><subject>JAK2 V617F MUTATION</subject><subject>Janus Kinase 2 - genetics</subject><subject>Male</subject><subject>MEXICO</subject><subject>Mutation</subject><subject>Myeloproliferative Disorders - genetics</subject><subject>Prevalence</subject><subject>THROMBOPHILIA</subject><subject>Thrombophilia - enzymology</subject><subject>Thrombophilia - genetics</subject><subject>Thrombosis - genetics</subject><issn>1607-8454</issn><issn>1607-8454</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2008</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp1ULtOwzAUtRCIlsLOhDyxBfxIYgemqqJQKIIBKrbITmzVKImL7Qj6SXwHP0aqVAIhMZ2rex669wBwjNEZxiw7x4jECaWIv1CcIsZ2wHCDEY-TePfXPAAH3r8iRAhiaB8MMGdZShI8BPrRmVq4NQxLZ2tpV0tTGQFNA--_Pj9MYeFiNrvoWAUXKWZTWLdBBGMbaDW8Hd8RaDxsbIACaqfeWtUEWIjWqw2_zfTGH4I9LSqvjrY4As_Tq6fJTTR_uJ5NxvOooHEWooyWChPNYk5V96DkSvFYcElRogQjSnYbygpRkhJxJlGpBNdSkEwykcalpCNw2ueunO2O8SGvjS9UVYlG2dbnaZakOKakE6JeWDjrvVM6X_VF5Bjlm27zv912lpNtditrVf4YtmV2gsteYBptXS3eravKPIh1ZZ12oimMz-m_8d_0lIei</recordid><startdate>20080801</startdate><enddate>20080801</enddate><creator>Garcés-Eisele, Javier</creator><creator>González-Carrillo, Martha L.</creator><creator>Reyes-Núñez, Virginia</creator><creator>Ruiz-Argüelles, Guillermo J.</creator><general>Taylor & Francis</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>7X8</scope></search><sort><creationdate>20080801</creationdate><title>Primary thrombophilia in México VII: the V617F mutation of JAK2 is not a frequent cause of thrombosis</title><author>Garcés-Eisele, Javier ; González-Carrillo, Martha L. ; Reyes-Núñez, Virginia ; Ruiz-Argüelles, Guillermo J.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c349t-93de12f7483e117b8ee84a8b305ea72ebb8e37cad2d087b0dea8fba29b7a64db3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2008</creationdate><topic>Adult</topic><topic>Cohort Studies</topic><topic>Female</topic><topic>Humans</topic><topic>JAK2 V617F MUTATION</topic><topic>Janus Kinase 2 - genetics</topic><topic>Male</topic><topic>MEXICO</topic><topic>Mutation</topic><topic>Myeloproliferative Disorders - genetics</topic><topic>Prevalence</topic><topic>THROMBOPHILIA</topic><topic>Thrombophilia - enzymology</topic><topic>Thrombophilia - genetics</topic><topic>Thrombosis - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Garcés-Eisele, Javier</creatorcontrib><creatorcontrib>González-Carrillo, Martha L.</creatorcontrib><creatorcontrib>Reyes-Núñez, Virginia</creatorcontrib><creatorcontrib>Ruiz-Argüelles, Guillermo J.</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><jtitle>Hematology (Luxembourg)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Garcés-Eisele, Javier</au><au>González-Carrillo, Martha L.</au><au>Reyes-Núñez, Virginia</au><au>Ruiz-Argüelles, Guillermo J.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Primary thrombophilia in México VII: the V617F mutation of JAK2 is not a frequent cause of thrombosis</atitle><jtitle>Hematology (Luxembourg)</jtitle><addtitle>Hematology</addtitle><date>2008-08-01</date><risdate>2008</risdate><volume>13</volume><issue>4</issue><spage>244</spage><epage>246</epage><pages>244-246</pages><issn>1607-8454</issn><eissn>1607-8454</eissn><abstract>The study of the V617F JAK2 gene mutation has been used to identify the presence of an underlying myeloproliferative disorder (MPD) as the cause of unexplained thrombosis. In a group of 77 consecutive Mexican patients with a clinical marker of a primary thrombophilic condition, we looked for this JAK2 mutation and did not find any individual displaying it. Given these results, we conclude that an undetected MPD is a very improbable cause of thromboses in Mexican mestizos, a population where the prevalence of these disorders has been found to be lower than that found in Caucasian populations. Accordingly, it seems that the investigation for the V617F mutation of the JAK2 gene is not mandatory in all Mexican mestizo patients with unexplained thrombophilia and that this genetic study should be reserved for special cases, such as patients with thrombosis in uncommon sites or patients with cell counts suggesting the presence of an underlying MPD.</abstract><cop>England</cop><pub>Taylor & Francis</pub><pmid>18796251</pmid><doi>10.1179/102453308X316077</doi><tpages>3</tpages></addata></record> |
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| identifier | ISSN: 1607-8454 |
| ispartof | Hematology (Luxembourg), 2008-08, Vol.13 (4), p.244-246 |
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| source | MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals |
| subjects | Adult Cohort Studies Female Humans JAK2 V617F MUTATION Janus Kinase 2 - genetics Male MEXICO Mutation Myeloproliferative Disorders - genetics Prevalence THROMBOPHILIA Thrombophilia - enzymology Thrombophilia - genetics Thrombosis - genetics |
| title | Primary thrombophilia in México VII: the V617F mutation of JAK2 is not a frequent cause of thrombosis |
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