Molecular Analysis of Factor VIII (F8) Gene Mutations and Its Detection in Libyan Patients with Hemophilia A

Abstract

Hemophilia A is an X linked recessive hemorrhagic disorder caused by mutations in the F8 gene that lead to qualitative and/or quantitative deficiencies of coagulation factor VIII (FVIII). Molecular diagnosis of hemophilia A is challenging because of the high number of different causative mutations that are distributed throughout the large F8 gene. Molecular studies of these mutations are essential in order to reinforce our understanding of their pathogenic effect responsible for this disorder. The present study aimed to obtain data on sequence variation in F8, a set of functionally validated control chromosomes of Libyan descent; we have performed for the first time molecular analysis of F8 in 43 Libyan hemophilia patients. This study included 63 cases 43 patient, 10 Carrier, and 10 Control, Amplifying of F8 by using PCR technique, and identification of mutations by using restriction enzyme Taq I for exon 23. Our results showed the presence of partial deletions in two brother patients in exon 23 this result had been concluded refer to areas that failed to be amplified by PCR. Our study may contribute to the knowledge on the risk factors of inhibitor development that allows libyan clinicians to assess whether an individual patient is at high risk.