Molecular Basis of Inherited Factor XIII- A Deficiency among Patients from Sistan - Baluchestan

Abstract

Background : Factor ХШ, the last zymogene in the clotting cascade, converts the loose fibrin polymer into a firm polymer. In the absence of factor ХШ the abnormal fibrin is soluble in acetic acid, as well as 5M urea. Factor ХШ is composed of 2 catalytic A subunit bounds and 2 B subunits as carriers (A2B2). The gene of A chain is located on chromosome 6. Factor ХШ deficiency is rare with a prevalence of only 1 in 2 million in the general population. The overwhelming majority of cases are due to mutations in subunit A. The aim of this study was to detect the mutations of subunit A.