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Paper Information

Journal:   IRANIAN JOURNAL OF MEDICAL SCIENCES (IJMS)   JUNE 2009 , Volume 34 , Number 2; Page(s) 137 To 140.
 
Paper: 

FREQUENCY OF FACTOR V LEIDEN AND PROTHROMBIN POLYMORPHISM IN SOUTH OF IRAN

 
 
Author(s):  KARIMI MEHRAN*, PANAHANDEH SHAHRAKI GH.R., YAVARIAN MAJID, AFRASIABI A.A.R., DEHBOZORGIAN J., BORDBAR M.R., MANNUCCI P.M.
 
* HEMOSTASIS AND THROMBOSIS UNIT, HEMATOLOGY RESEARCH CENTER, SHIRAZ UNIVERSITY OF MEDICAL SCIENCE, SHIRAZ, IRAN
 
Abstract: 

Normal hemostasis requires balanced regulation of prothrombotic and antithrombotic factors. Inherited alteration of factor V and prothrombin gene, the G20210A mutation, increases the resistance of factor V to degradation and booster production of prothrombin respectively. These alterations can increase hypercoagulability leading to thrombotic consequences. We aimed to assess the frequencies of these mutations in a group of the population of southern Iran. In total, 198 healthy volunteers with the age range of 1-64 years were selected and screened for factor V Leiden and prothrombin mutations using polymerase chain reaction and restriction fragment length polymorphism techniques. The carrier frequencies for factor V Leiden and prothrombin mutation in the studied cohort were 4.1% and 3.07%, respectively. In the studied area, the allele frequency of factor V is higher than the prothrombin G20210A mutation (0.0204 v 0.0153). According to the data and Hardy-Weinberger equation, the total risk of thrombosis caused by homozygosity and heterozygosity of factor V Leiden, prothrombin G20210A mutation and compound heterozygosity of these mutations are about 1 in 500 individuals.

 
Keyword(s): FACTOR V LEIDEN, THROMBOSIS, MUTATION, PROTHROMBIN
 
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