Volume 7, Number 1 (2-2017) | ijpho 2017, 7(1): 48-56 | Back to browse issues page


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Kazemzadeh S, Mohammadi R, Shadkam Farokhi F, Shafiian A, Faranoush M, Farsinejad A et al . Methylenetetrahydrofolate Reductase Polymorphisms in Iranian Patients with Glanzmann’s Thrombasthenia. ijpho. 2017; 7 (1) :48-56
URL: http://ijpho.ssu.ac.ir/article-1-286-en.html

Abstract:   (350 Views)

Background: The most common polymorphisms identified in the Methylenetetrahydrofolate reductase
(MTHFR) gene, C677T and A1298C lead to defective activity of this enzyme and increase the risk of venous
and arterial thrombosis. There are limited investigations regarding the effects of thrombogenic polymorphisms
on the clinical phenotypes of rare hereditary hemorrhagic disorders like Glanzmann's thrombasthenia (GT) and
the exact correlation between MTHFR polymorphisms and GT is not well established. This calls for further
studies in populations with a large number of such patients. So, this study was performed to question whether
coinheritance of MTHFR polymorphisms and GT can modulate the clinical phenotype of GT.
Material and Methods: In the present case-control study which performed at Pathology and Stem Cell
Research Center at Kerman University of Medical Sciences, 65 patients with GT and 100 normal voluntary
blood donors as the control group were evaluated. The mean (SD) age of patients and the control group were
2.33±1.54 years (range 0-5 years) and 2.6±1.72, respectively. The detection of MTHFR C677T and A1298C
polymorphisms was carried out using a Polymerase Chain Reaction- Restriction Fragment Length
Polymorphism (PCR-RFLP) method. In accord with the Glanzmann's Thrombasthenia Italian Team (GLATIT)
Protocol, the clinical severity of bleeding in patients with GT was determined. Two tests of descriptive statistics
(i.e. frequencies) and Chi-square, using the SPSS version 19, were employed to analyze the data.
Results: Based on results, there were no significant statistical differences in the prevalence of the MTHFR
C677T polymorphism (P=0.703) or the MTHFR A1298C polymorphism (P=0.187) between patients and the
control group. In addition, no association between the severity of bleeding and these polymorphisms was found
(P=0.385).
Conclusions: It was concluded that the thrombogenic mutations of MTHFR do not solely modulate the severity
of clinical symptoms in patients with GT

Full-Text [PDF 276 kb]   (132 Downloads)    
Type of Study: Research | Subject: Special
Received: 2016/12/18 | Accepted: 2016/12/18 | Published: 2016/12/18

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