Dergiler / Meandros Medical And Dental Journal / 2002 / Cilt: 3 Sayı: 3
HEMOFİLİ A HASTALIĞININ MOLEKÜLER GENETİK TEMELLERİ
- Sayfa
- 43–47
- DOI
- —
Özet
-
Abstract
Haemophilia A, with a prevalence of 1 in 10.000 is caused by a deficiency of blood coagulation factor VIII (FVIII). Haemophilia A is categorized into severe, moderate, or mild forms, with over half of the patients manifesting the severe disease. The factor VIII gene is extremely large (~ 180 kb) and structurally complex (26 exons). FVIII gene is located towards the end of the long arm at Xq28. Current treatment of haemophilia A is directed toward replacing the missing clotting factor in response to bleeding crises with infusions of plasma-derived or recombinant FVIII. Considerable progress has been made recently in the development of adenoviral-mediated in vivo and ex vivo gene therapy of haemophiliaA.