UNUSUAL PREVALENCE OF C559T > C MUTATION IN PATIENTS WITH FACTOR XIII DEFICIENCY IN SOUTHEAST OF IRAN

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MIRI MOGHADDAM EBRAHIM; GARMIE YASAMAN; NADERI MAJID

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Journal: Gene, Cell and Tissue Year:2014 | Volume:1 | Issue:1 Page(s): 0-0

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Information Journal Paper

Title

UNUSUAL PREVALENCE OF C559T > C MUTATION IN PATIENTS WITH FACTOR XIII DEFICIENCY IN SOUTHEAST OF IRAN

Author(s)

MIRI MOGHADDAM EBRAHIM | GARMIE YASAMAN | NADERI MAJID | Issue Writer Certificate

Keywords

MUTATION

FACTOR XIII

DEFICIENCY

IRAN

GENOTYPE

Abstract

Background: Congenital FACTOR XIII (FXIII) DEFICIENCY is a rare severs autosomal recessive bleeding disorder.Objectives: The aim of the study was to determine the c559T > C FXIIIA GENOTYPE frequency in patients with FXIII hemophilia who lived in Sistan and Balouchestan province in southeast of IRAN.Patients and Methods: We determined the GENOTYPE of 180 patients with FACTOR XIII hemophilia by tetra-primer ampliﬁcation refractory MUTATION system-polymerases chain reaction (T-ARMS-PCR).Results: The frequency of C559T > C was 96.6% and T-ARMS-PCR was an efficient tool for detecting this GENOTYPE. Moreover, the result showed that C559T > C MUTATION was a risk factor for FXIIIA DEFICIENCY in a sample of IRANian population.Conclusions: Due to highest prevalence of FXIII DEFICIENCY (70 times higher than the global average), FXIII DEFICIENCY must be consider as the most underdiagnosed bleeding disorder in this area. Hence, proper screening systems alongside common screening tests to identify carriers seem necessary. Due to the limited MUTATIONs, T-ARMS-PCR with sound speed, accuracy, sensitivity, and cheapness can be used to screen for these MUTATIONs.

Cites

PREVALENCE, LABORATORY DIAGNOSIS AND TREATMENT OF FACTOR XIII DEFICIENCY IN IRAN

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APA: Copy

MIRI MOGHADDAM, EBRAHIM, GARMIE, YASAMAN, & NADERI, MAJID. (2014). UNUSUAL PREVALENCE OF C559T > C MUTATION IN PATIENTS WITH FACTOR XIII DEFICIENCY IN SOUTHEAST OF IRAN. GENE, CELL AND TISSUE, 1(1), 0-0. SID. https://sid.ir/paper/345080/en

Vancouver: Copy

MIRI MOGHADDAM EBRAHIM, GARMIE YASAMAN, NADERI MAJID. UNUSUAL PREVALENCE OF C559T > C MUTATION IN PATIENTS WITH FACTOR XIII DEFICIENCY IN SOUTHEAST OF IRAN. GENE, CELL AND TISSUE[Internet]. 2014;1(1):0-0. Available from: https://sid.ir/paper/345080/en

IEEE: Copy

EBRAHIM MIRI MOGHADDAM, YASAMAN GARMIE, and MAJID NADERI, “UNUSUAL PREVALENCE OF C559T > C MUTATION IN PATIENTS WITH FACTOR XIII DEFICIENCY IN SOUTHEAST OF IRAN,” GENE, CELL AND TISSUE, vol. 1, no. 1, pp. 0–0, 2014, [Online]. Available: https://sid.ir/paper/345080/en

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