Mutation spectrum in Iranian patients affected by Factor VII deficiency

Factor VII deficiency is an autosomal recessive disorder caused by lack of protein called factor VII in the blood. It contributes to problems with blood clotting. Factor VII is certainly one of the proteins that lead to blood clotting in the coagulation cascade. It belongs to serine protease enzymes. Factor VII deficiency is a rare bleeding disorder that varies in severity between affected individuals. The signs and symptoms of this condition can begin at any age, although probably the most severe cases are apparent in infancy. However, as much as one-third of individuals with factor VII deficiency never show any sign of this disease The gene for factor VII is located on chromosome 13 (13q34). which encode a vitamin K-dependent factor critical for hemostasis.,. The present study aimed to analyze mutations in Factor VII in Iranian patientsMaterial and methods: In the present study, mutations in factor VII gene were analyzed in a total of 26 Iranian families referred to Human genetic research center. Informed consent for was obtained and DNA extraction was performed using salting out procedure. All exons and introns boundaries of the factor VII gene were sequenced using Sanger sequencing.Results: We identified 3 different kinds of mutations including seven missense ,two nonsense , two deletion and an splicing mutations in Iranian patients referred to Human genetic research center.Conclusion: The obtained results revealed high diversity of mutations in Iranian patients which increas our understanding about etiology of Factor VII deficiency in Iranian population and it could be helpful in genetic counseling and genetic diagnosis of this disease In Iran.

کلیدواژه ها:

Factor VII deficiency ، Iran ، sequencing ، blood clotting