Methylenetetrahydrofolate Reductase Polymorphisms in Iranian Patients with Glanzmann's Thrombasthenia
Abstract:
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
Language:
English
Published:
Iranian Journal of Pediatric Hematology and Oncology, Volume:7 Issue: 1, Winter 2017
Pages:
48 to 56
magiran.com/p1633743  
دانلود و مطالعه متن این مقاله با یکی از روشهای زیر امکان پذیر است:
اشتراک شخصی
با عضویت و پرداخت آنلاین حق اشتراک یک‌ساله به مبلغ 990,000ريال می‌توانید 70 عنوان مطلب دانلود کنید!
اشتراک سازمانی
به کتابخانه دانشگاه یا محل کار خود پیشنهاد کنید تا اشتراک سازمانی این پایگاه را برای دسترسی نامحدود همه کاربران به متن مطالب تهیه نمایند!
توجه!
  • حق عضویت دریافتی صرف حمایت از نشریات عضو و نگهداری، تکمیل و توسعه مگیران می‌شود.
  • پرداخت حق اشتراک و دانلود مقالات اجازه بازنشر آن در سایر رسانه‌های چاپی و دیجیتال را به کاربر نمی‌دهد.
دسترسی سراسری کاربران دانشگاه پیام نور!
اعضای هیئت علمی و دانشجویان دانشگاه پیام نور در سراسر کشور، در صورت ثبت نام با ایمیل دانشگاهی، تا پایان فروردین ماه 1403 به مقالات سایت دسترسی خواهند داشت!
In order to view content subscription is required

Personal subscription
Subscribe magiran.com for 50 € euros via PayPal and download 70 articles during a year.
Organization subscription
Please contact us to subscribe your university or library for unlimited access!