Methylenetetrahydrofolate Reductase Polymorphisms in Iranian Patients with Glanzmann’ s Thrombasthenia

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Kazemzadeh Shima; MOHAMMADI REZVAN; Shadkam Farokhi Fatemeh; Shafiian Alireza; FARANOUSH MOHAMMAD; FARSINEJAD ALIREZA; ALA FEREYDOUN

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Journal: IRANIAN JOURNAL OF PEDIATRIC HEMATOLOGY AND ONCOLOGY Year:2017 | Volume:7 | Issue:1 Page(s): 48-56

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Title

Methylenetetrahydrofolate Reductase Polymorphisms in Iranian Patients with Glanzmann’ s Thrombasthenia

Author(s)

Keywords

Glanzmann's thrombasthenia

Polymorphism

Methylenetetetrahydrofolate reductase

Rare hereditary bleeding disorders

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.

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APA: Copy

Kazemzadeh, Shima, MOHAMMADI, REZVAN, Shadkam Farokhi, Fatemeh, Shafiian, Alireza, FARANOUSH, MOHAMMAD, FARSINEJAD, ALIREZA, & ALA, FEREYDOUN. (2017). Methylenetetrahydrofolate Reductase Polymorphisms in Iranian Patients with Glanzmann’ s Thrombasthenia. IRANIAN JOURNAL OF PEDIATRIC HEMATOLOGY AND ONCOLOGY, 7(1), 48-56. SID. https://sid.ir/paper/320754/en

Vancouver: Copy

Kazemzadeh Shima, MOHAMMADI REZVAN, Shadkam Farokhi Fatemeh, Shafiian Alireza, FARANOUSH MOHAMMAD, FARSINEJAD ALIREZA, ALA FEREYDOUN. Methylenetetrahydrofolate Reductase Polymorphisms in Iranian Patients with Glanzmann’ s Thrombasthenia. IRANIAN JOURNAL OF PEDIATRIC HEMATOLOGY AND ONCOLOGY[Internet]. 2017;7(1):48-56. Available from: https://sid.ir/paper/320754/en

IEEE: Copy

Shima Kazemzadeh, REZVAN MOHAMMADI, Fatemeh Shadkam Farokhi, Alireza Shafiian, MOHAMMAD FARANOUSH, ALIREZA FARSINEJAD, and FEREYDOUN ALA, “Methylenetetrahydrofolate Reductase Polymorphisms in Iranian Patients with Glanzmann’ s Thrombasthenia,” IRANIAN JOURNAL OF PEDIATRIC HEMATOLOGY AND ONCOLOGY, vol. 7, no. 1, pp. 48–56, 2017, [Online]. Available: https://sid.ir/paper/320754/en

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