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The risk of recurrent deep venous thrombosis among heterozygous carriers of both factor V Leiden and the G20210A prothrombin mutation

Article Abstract:

People who have both the factor V Leiden mutation and the G20210A mutation have an increased risk of deep vein thrombosis than those who have only one of the mutations. Deep vein thrombosis occurs when blood clots form in the legs. In a study of about 400 people with a first episode of deep vein thrombosis, those with both mutations were over twice as likely to have recurring deep vein thrombosis as those with one mutation or those with no mutation.

Author: Martinelli, Ida, Leone, Giuseppe, Mannucci, Pier Mannuccio, De Stefano, Valerio, Paciaroni, Katia, Chiusolo, Patrizia, Casorelli, Ida, Rossi, Elena
Publisher: Massachusetts Medical Society
Publication Name: The New England Journal of Medicine
Subject: Health
ISSN: 0028-4793
Year: 1999
Genetic aspects, Thrombosis, Deep vein, Deep vein thrombosis

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Mutations in coagulation factors in women with unexplained late fetal loss

Article Abstract:

Pregnant women with the factor V Leiden gene mutation or the prothrombin gene mutation have three times the risk of miscarriage compared to women without these mutations. This was the conclusion of a study of 232 women with a normal pregnancy and 67 who had a miscarriage. Both mutations cause abnormal blood clotting.

Author: Martinelli, Ida, Taioli, Emanuela, Cetin, Irene, Marinoni, Alessandra, Gerosa, Sonia, Villa, Maria V., Bozzo, Maddalena, Mannucci, Pier M.
Publisher: Massachusetts Medical Society
Publication Name: The New England Journal of Medicine
Subject: Health
ISSN: 0028-4793
Year: 2000
Risk factors, Blood clotting disorders, Blood coagulation disorders, Miscarriage

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The hemophilias -- from royal genes to gene therapy

Article Abstract:

Hemophilia may be the first genetic disease to be cured by gene therapy. It is caused by a gene mutation on the X chromosome that causes a deficiency of blood coagulation factor VIII or IX.

Author: Mannucci, Pier M., Tuddenham, Edward G.D.
Publisher: Massachusetts Medical Society
Publication Name: The New England Journal of Medicine
Subject: Health
ISSN: 0028-4793
Year: 2001
Care and treatment, Hemophilia

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Subjects list: Health aspects, Gene mutations, Gene mutation
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