Tag Archives: Hemophilia A

Detection of Intron 1 inversion mutation in Sudanese patients with Hemophilia A (Published)

Hemophilia A is an X-linked bleeding disorder resulting from heterogeneous mutations in the factor VIII (FVIII) gene which is lead to absence or decreased function of coagulation factor VIII. About 72 patients regularly come to hemophilia center of Khartoum we find all study group are male  two  patients are intron 1 inverted mutation (2.7%) , 59 patients (81.9%) factor VIII activity is less than 1%, 13 patients (19.1%) factor VIII activity from more than 1 and less than 5%. About 8 patients (11.1%) are positive factor VIII inhibitor.

Keywords: Detection of Intron 1, Hemophilia A, Sudanese patients, inversion mutation