{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,25]],"date-time":"2026-01-25T11:28:37Z","timestamp":1769340517953,"version":"3.49.0"},"reference-count":16,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2013,9,16]],"date-time":"2013-09-16T00:00:00Z","timestamp":1379289600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["European J of Haematology"],"published-print":{"date-parts":[[2013,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>It is known that patients with sickle cell disease (<jats:styled-content style=\"fixed-case\">SCD<\/jats:styled-content>) present activation of the blood coagulation and fibrinolytic systems, especially during vaso\u2010occlusive crises and also during the steady state of the disease. We determined whether the presence of the factor prothrombin gene <jats:styled-content style=\"fixed-case\">G<\/jats:styled-content>20210<jats:styled-content style=\"fixed-case\">A<\/jats:styled-content> variant, factor <jats:styled-content style=\"fixed-case\">V<\/jats:styled-content> gene <jats:styled-content style=\"fixed-case\">G<\/jats:styled-content>1691<jats:styled-content style=\"fixed-case\">A<\/jats:styled-content> mutation (factor <jats:styled-content style=\"fixed-case\">V L<\/jats:styled-content>eiden), and methylenetetrahydrofolate reductase (<jats:styled-content style=\"fixed-case\">MTHFR<\/jats:styled-content>) <jats:styled-content style=\"fixed-case\">C<\/jats:styled-content>677<jats:styled-content style=\"fixed-case\">T<\/jats:styled-content> polymorphisms may be risk factors for vascular complications in individuals with <jats:styled-content style=\"fixed-case\">SCD<\/jats:styled-content>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The study involved 150 patients with sickle cell anemia and 150 healthy controls of <jats:styled-content style=\"fixed-case\">C<\/jats:styled-content>entral <jats:styled-content style=\"fixed-case\">I<\/jats:styled-content>ndia. Genotyping of three thrombophilic mutations was carried out by <jats:styled-content style=\"fixed-case\">PCR<\/jats:styled-content>\u2010<jats:styled-content style=\"fixed-case\">RFLP<\/jats:styled-content> methods using <jats:styled-content style=\"fixed-case\">M<\/jats:styled-content><jats:italic>nl<\/jats:italic><jats:styled-content style=\"fixed-case\">I<\/jats:styled-content>,<jats:styled-content style=\"fixed-case\"> H<\/jats:styled-content><jats:italic>ind <\/jats:italic><jats:styled-content style=\"fixed-case\">III<\/jats:styled-content>, and <jats:styled-content style=\"fixed-case\">H<\/jats:styled-content><jats:italic>inf <\/jats:italic><jats:styled-content style=\"fixed-case\">I<\/jats:styled-content>, respectively, for factor <jats:styled-content style=\"fixed-case\">V L<\/jats:styled-content>eiden, prothrombin, and <jats:styled-content style=\"fixed-case\">MTHFR<\/jats:styled-content> mutations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Patients with <jats:styled-content style=\"fixed-case\">SCD<\/jats:styled-content> had significantly higher prevalence of mutant variants of <jats:styled-content style=\"fixed-case\">MTHFR<\/jats:styled-content> gene (28.0% heterozygotes and 14.6% homozygotes) and <jats:styled-content style=\"fixed-case\">FVL<\/jats:styled-content> gene (14.6% heterozygotes) as compared to normal\/control individuals, but complete absence of mutant variants of prothrombin gene. The patients with <jats:styled-content style=\"fixed-case\">SCD<\/jats:styled-content> having mutant variants of <jats:styled-content style=\"fixed-case\">MTHFR<\/jats:styled-content> and <jats:styled-content style=\"fixed-case\">FVL<\/jats:styled-content> genes showed higher incidence of pain in chest, abdomen, and bone joints along with early age of onset of clinical manifestations as well as frequent dependence on blood transfusion than those patients with <jats:styled-content style=\"fixed-case\">SCD<\/jats:styled-content> having wild variants of these thrombotic genes. As compared to control subjects, <jats:styled-content style=\"fixed-case\">SCD<\/jats:styled-content> individuals having mutant variants of <jats:styled-content style=\"fixed-case\">FVL<\/jats:styled-content> and <jats:styled-content style=\"fixed-case\">MTHFR<\/jats:styled-content> genes had significant association with higher levels of prothrombin fragment (<jats:styled-content style=\"fixed-case\">F<\/jats:styled-content>1+2), <jats:styled-content style=\"fixed-case\">D<\/jats:styled-content>\u2010dimer, thrombin\u2010antithrombin (<jats:styled-content style=\"fixed-case\">TAT<\/jats:styled-content>), and lower level of protein <jats:styled-content style=\"fixed-case\">C<\/jats:styled-content>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p><jats:styled-content style=\"fixed-case\">MTHFR C<\/jats:styled-content>677<jats:styled-content style=\"fixed-case\">T<\/jats:styled-content> and <jats:styled-content style=\"fixed-case\">FVL G<\/jats:styled-content>1691<jats:styled-content style=\"fixed-case\">A<\/jats:styled-content> polymorphisms may be risk factors for increased vascular complications in patient with <jats:styled-content style=\"fixed-case\">SCD<\/jats:styled-content>.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ejh.12190","type":"journal-article","created":{"date-parts":[[2013,9,2]],"date-time":"2013-09-02T05:44:43Z","timestamp":1378100683000},"page":"462-466","source":"Crossref","is-referenced-by-count":17,"title":["Clinical impact of factor <scp>V L<\/scp>eiden, prothrombin <scp>G<\/scp>20210<scp>A<\/scp>, and <scp>MTHFR C<\/scp>677<scp>T<\/scp> mutations among sickle cell disease patients of <scp>C<\/scp>entral <scp>I<\/scp>ndia"],"prefix":"10.1111","volume":"91","author":[{"given":"Sudhansu Sekhar","family":"Nishank","sequence":"first","affiliation":[{"name":"Regional Medical Research Centre for Tribals (ICMR) Jabalpur Madhya Pradesh India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mendi Prema Shyam Sunder","family":"Singh","sequence":"additional","affiliation":[{"name":"Regional Medical Research Centre for Tribals (ICMR) Jabalpur Madhya Pradesh India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rajiv","family":"Yadav","sequence":"additional","affiliation":[{"name":"Regional Medical Research Centre for Tribals (ICMR) Jabalpur Madhya Pradesh India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2013,9,16]]},"reference":[{"key":"e_1_2_7_2_1","first-page":"704","article-title":"Inherited haemoglobin disorders: an increasing global health problem","volume":"79","author":"Weatherall DJ","year":"2001","journal-title":"Bull World Health Organ"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.2007.06740.x"},{"key":"e_1_2_7_4_1","first-page":"1","article-title":"Regional Medical Research Centre 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