c.559 t>c as the most common mutation of factor xiii deficiency in iranian patients is not restricted to southeast iran
نویسندگان
چکیده
background: iran has a large group of patients with severe congenital factor xiii deficiency (fxiiid) and trp187arg mutation that is most disease causing mutation of fxiii in the world is only observed in southeast of iran with 352 patients with fxiiid. 743 patients with fxiiid was observed in 17 provinces of iran but tehran city with more than 12 million population has no any registered patient with fxiiid. here we described first case with severe congenital fxiiid in tehran province with underline fxiii mutation. methods: a neonate with prolonged umbilical cord bleeding was referred to hemophilia center. patient was screened by routine coagulation tests and by clot solubility test. after observation of normal routine tests and abnormal clot solubility patient was underwent a full sequencing of fxiii-a gene. for confirmation of detected mutation in fxiii-a gene, exon 4 was amplified by pcr and cleaved by eco130i restriction enzyme. results: we found first case with severe congenital fxiiid in tehran province with trp187arg mutation in exon 4 of fxiii-a gene. patient’s parents were heterozygote for this mutation. conclusion: trp187arg mutation of fxiii-a is the most common mutation in iranian patients with fxiiid and is not restricted to southeast of iran. keywords: factor xiii deficiency, trp187arg mutation, tehran province
منابع مشابه
شیوع، تشخیص آزمایشگاهی و درمان کمبود فاکتور سیزده در ایران
Factor XIII deficiency is a bleeding disorder that its prevalence in the general population is about 1 in 2 million people around the world. In Iran, the high rate of consanguineous marriages lead to high rate of disorder with 473 factor XIII deficient patients that is about 12 times higher than the global Prevalence of disorder. The study, is a comprehensive review of all aspects of factor XII...
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عنوان ژورنال:
journal of cellular and molecular anesthesiaجلد ۱، شماره ۴، صفحات ۱۵۴-۱۵۷
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