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• W1861347749 abstract "Recently, it has been published that the majority of homozygous carriers of the prothrombin polymorphism 20210G/A remain asymptomatic [ 1 Girolami A Simioni P Tormene D Scarano L Two additional homozygous patients for the 20210 prothrombin polymorphism with no venous thrombosis. Thromb Res. 1999; 96: 415-417 Abstract Full Text Full Text PDF PubMed Scopus (15) Google Scholar , 2 Girolami A Simioni P Manfrin A Tormene D Luni S Asymptomatic homozygous nt 20210 G to A prothrombin polymorphism in two blood donors belonging to two different kindreds. Clin Appl Thromb Hemostasis. 1999; 5: 48-51 Crossref PubMed Scopus (14) Google Scholar , 3 Alatri A Franchi F Moia M Homozygous G20210A prothrombin gene mutation without thromboembolic events: a case report. Thromb Haemostasis. 1998; 80: 1028-1029 Crossref PubMed Scopus (20) Google Scholar , 4 Martlew VJ Perez-Casal M Alfirevic Z Toh CH What clinical significance has the presence of the homozygous G20210A prothrombin gene mutation in a healthy woman?. Thromb Haemostasis. 1998; 84: 355-356 Google Scholar , 5 Souto JC Mateo J Soria JM Llobet D Coll I Borrell M Fontcuberta J Homozygotes for prothrombin gene 20210 A allele in a thrombophilic family without clinical manifestations of venous thromboembolism. Haematologica. 1999; 84: 627-632 PubMed Google Scholar , 6 Morange PE Barthet MC Henry M Fontanet H Aillaud MF Alessi MC Juhan-Vague I A three-generation family presenting five cases of homozygosity for the 20210 G to A prothrombin variant. Thromb Haemostasis. 1999; 80: 859-860 Crossref Scopus (12) Google Scholar , 7 Akar N Egin Y A further case of homozygous G20210A prothrombin gene mutation without thromboembolic events. Clin Appl Thromb Hem. 1999; 5: 284 Crossref PubMed Scopus (7) Google Scholar ] even in the presence of several prothrombotic risk situations [ 1 Girolami A Simioni P Tormene D Scarano L Two additional homozygous patients for the 20210 prothrombin polymorphism with no venous thrombosis. Thromb Res. 1999; 96: 415-417 Abstract Full Text Full Text PDF PubMed Scopus (15) Google Scholar , 2 Girolami A Simioni P Manfrin A Tormene D Luni S Asymptomatic homozygous nt 20210 G to A prothrombin polymorphism in two blood donors belonging to two different kindreds. Clin Appl Thromb Hemostasis. 1999; 5: 48-51 Crossref PubMed Scopus (14) Google Scholar , 3 Alatri A Franchi F Moia M Homozygous G20210A prothrombin gene mutation without thromboembolic events: a case report. Thromb Haemostasis. 1998; 80: 1028-1029 Crossref PubMed Scopus (20) Google Scholar , 4 Martlew VJ Perez-Casal M Alfirevic Z Toh CH What clinical significance has the presence of the homozygous G20210A prothrombin gene mutation in a healthy woman?. Thromb Haemostasis. 1998; 84: 355-356 Google Scholar , 6 Morange PE Barthet MC Henry M Fontanet H Aillaud MF Alessi MC Juhan-Vague I A three-generation family presenting five cases of homozygosity for the 20210 G to A prothrombin variant. Thromb Haemostasis. 1999; 80: 859-860 Crossref Scopus (12) Google Scholar , 7 Akar N Egin Y A further case of homozygous G20210A prothrombin gene mutation without thromboembolic events. Clin Appl Thromb Hem. 1999; 5: 284 Crossref PubMed Scopus (7) Google Scholar ], suggesting that the prothrombotic role played by this polymorphism is minor, if any [ 8 Girolami A Simioni P Girolami B Zanon E Low incidende of venous thrombosis in homozygous patients with nt20210 G to A prothrombin polymorphism. Clin Appl Thromb Hem. 1999; 5: 205-207 Crossref PubMed Scopus (6) Google Scholar , 9 Girolami A Vianello F The significance or non significance of the G to A 20210 prothrombin polymorphism. Clin Appl Thromb Hem. 2000; 6: 239-240 Crossref PubMed Scopus (5) Google Scholar , 10 Nguyen A Review and management of patients with the prothrombin G20210A polymorphism. Clin Appl Thromb Hem. 2000; 6: 94-99 Crossref PubMed Scopus (8) Google Scholar ]. However, several homozygous carriers have been reported to present severe or unusual vein thrombosis [ 6 Morange PE Barthet MC Henry M Fontanet H Aillaud MF Alessi MC Juhan-Vague I A three-generation family presenting five cases of homozygosity for the 20210 G to A prothrombin variant. Thromb Haemostasis. 1999; 80: 859-860 Crossref Scopus (12) Google Scholar , 11 González AJ Medina JM Fernández CR Macias MD Coto E A patient homozygous for mutation 20210 A in the prothrombin gene with venous thrombosis and transient ischemic attacks of thrombotic origin. Haematologica. 1998; 83: 1050-1051 PubMed Google Scholar , 12 Zawadzki G Gaveriaux V Trillot N Bauters A Watel A Alhenc-Gelas M Preudhomme C Jude B Homozygous G20210A transition in the prothrombin gene associated with severe venous thrombotic disease: two cases in a French family. Thromb Haemostasis. 1998; 80: 1027-1028 Crossref PubMed Scopus (26) Google Scholar , 13 Kyrle PA Mannhalter C Beguin S Stümpflen A Hirschl M Weltermann A Stain M Brenner B Speiser W Pabinger I Lechner K Eichinger S Clinical studies and thrombin generation in patients homozygous or heterozygous for the G20210A mutation in the prothrombin gene. Arterioscler Thromb Vasc Biol. 1998; 18: 1287-1291 Crossref PubMed Scopus (152) Google Scholar , 14 Eikelboom JW Ivey L Ivey J Baker RI Familial thrombophilia and the prothrombin 20210 A mutation: association which increased thrombin generation and unusual thrombosis. Blood Coagulation Fibrin. 1999; 10: 1-5 Crossref PubMed Scopus (22) Google Scholar , 15 Bauduer F Claracq M Orgogozo F Mariescu M Ducout L Freyburge G Mesenteric venous thrombosis in a 40-year-old man with homozygous factor II G20210A mutation. Blood Coagulation Fibrin. 2000; 11: 785-786 Crossref PubMed Scopus (7) Google Scholar ] and some of them were spontaneous [ 6 Morange PE Barthet MC Henry M Fontanet H Aillaud MF Alessi MC Juhan-Vague I A three-generation family presenting five cases of homozygosity for the 20210 G to A prothrombin variant. Thromb Haemostasis. 1999; 80: 859-860 Crossref Scopus (12) Google Scholar , 14 Eikelboom JW Ivey L Ivey J Baker RI Familial thrombophilia and the prothrombin 20210 A mutation: association which increased thrombin generation and unusual thrombosis. Blood Coagulation Fibrin. 1999; 10: 1-5 Crossref PubMed Scopus (22) Google Scholar , 15 Bauduer F Claracq M Orgogozo F Mariescu M Ducout L Freyburge G Mesenteric venous thrombosis in a 40-year-old man with homozygous factor II G20210A mutation. Blood Coagulation Fibrin. 2000; 11: 785-786 Crossref PubMed Scopus (7) Google Scholar ]. Therefore, the phenotypic expression of the 20210AA genotype in the prothrombin gene remains a question of debate. Here, we report a homozygous girl who developed severe bilateral iliac vein thrombosis 2 months after starting on oral contraception and was found to be homozygous for the 20210G/A prothrombin mutation gene." @default.
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• W1861347749 title "Homozygous 20210G/A Prothrombin Gene Mutation Associated with Bilateral Iliac Vein Thrombosis: A Case Report" @default.
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