| Title | Reduced clinical severity in a mutationally well-characterized cohort of severe hemophilia with associated thrombophilia. | | Author(s) | Shetty S, Ghosh K | | Institution | Institute of Immunohaematology, KEM Hospital, Parel, India. | | Source | Am J Clin Pathol 2008 Jul; 130(1):84-7. | | Abstract | The clinical phenotype in hemophilia generally correlates with the type of mutations. We studied 16 patients with severe hemophilia A (factor VIII and factor VIII:Ag <1%) with intron 22 inversions of the factor VIII gene and 6 patients with hemophilia B, 2 each having a common mutation, for the common prothrombotic markers in the anticoagulant and fibrinolytic cascade. Of the patients, 6 of 10 with "clinically mild" and 1 of 12 with "clinically severe" disease had a deficiency or abnormality of any of the factors studied. Thrombophilia thus modulates the clinical severity of hemophilia as is observed in patients who carry similar mutations. | | Language | eng | | Pub Type(s) | Journal Article
| | PubMed ID | 18550475 |
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