title: Spectrum of factor X gene mutations in Iranian patients with congenital factor X deficiency.
abstract: Congenital factor X deficiency is one of the most severe forms of rare bleeding disorders transmitted in autosomal recessive manner. According to the World Federation of Hemophilia survey, 153 patients with factor X deficiency (FXD) live in Iran, but a few studies have been performed to determine the precise distribution of FXD in different parts of the country and to assess molecular basis of this disorder in Iranian patients. This study was conducted to assess the spectrum of factor X gene mutation in Iranian patients with congenital FXD. All relevant English and Persian-language publications were searched (until 2015). Clinical presentations or molecular basis of nearly 90 Iranian patients were reported in different studies. Most of these studies focused on clinical presentations of patients, whereas molecular analyses were rarely performed. Most molecular studies found a diversity in factor X disease causing mutations in Iranian patients. Like other parts of the world, the majority of mutations in Iranian patients were missense mutations, but splice-site mutations were relatively common. Three extremely rare cases of combined factor X and factor VII deficiencies were observed in two cases of which this disorder resulted from different missense mutations in respective factor genes. A wide spectrum of factor X gene mutations was observed in Iranian patients with congenital FXD that revealed diversity in FXD gene mutations.
authors.affiliation: aDepartment of Hematology and Blood Transfusion, School of Allied Medical Sciences bCellular and Molecular Research Center, Iran University of Medical Sciences, Tehran cDepartment of Laboratory Medicine, Zabol University of Medical Sciences, Zabol dSchool of Nursing and Midwifery, Shahroud University of Medical Sciences, Shahroud eDepartment of Hematology and Blood Transfusion, School of Allied Medical Sciences, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Akbar
authors.initials: A
authors.lastname: Dorgalaleh
authors.forename: Farhad
authors.initials: F
authors.lastname: Zaker
authors.forename: Shadi
authors.initials: S
authors.lastname: Tabibian
authors.forename: Shaban
authors.initials: S
authors.lastname: Alizadeh
authors.forename: Saeed
authors.initials: S
authors.lastname: Dorgalele
authors.forename: Soudabeh
authors.initials: S
authors.lastname: Hosseini
authors.forename: Morteza
authors.initials: M
authors.lastname: Shamsizadeh
mesh_terms: D005170:Factor X / Q000235:genetics*; D005171:Factor X Deficiency / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D007492:Iran / Q000453:epidemiology; D008297:Male; D009154:Mutation; D020125:Mutation, Missense
chemical_list: D005170:Factor X