Repository of Research and Investigative Information

Repository of Research and Investigative Information

Zabol University of Medical Sciences

Spectrum of factor X gene mutations in Iranian patients with congenital factor X deficiency

(2016) Spectrum of factor X gene mutations in Iranian patients with congenital factor X deficiency. Blood Coagulation & Fibrinolysis. pp. 324-327. ISSN 0957-5235

Full text not available from this repository.

Official URL: <Go to ISI>://WOS:000373209400015

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.

Item Type: Article
Keywords: missense mutation molecular analysis factor x deficiency inherited coagulation disorders rare bleeding disorders southern iran factor-vii diagnosis phenotype
Divisions:
Page Range: pp. 324-327
Journal or Publication Title: Blood Coagulation & Fibrinolysis
Volume: 27
Number: 3
Identification Number: 10.1097/Mbc.0000000000000435
ISSN: 0957-5235
Depositing User: مهندس مهدی شریفی
URI: http://eprints.zbmu.ac.ir/id/eprint/2585

Actions (login required)

View Item View Item