Arg77His and Trp187Arg are the most common mutations causing FXIII deficiency in Iran

Peyman Eshghi, Nader Cohan, Manigeh Lak, Majid Naderi, Flora Peyvandi, Marzia Menegatti, Mehran Karimi

Research output: Contribution to journalArticlepeer-review

Abstract

The aim of this study was to review the literature for the genetic mutations causing inherited factoe XIII (FXIII) deficiency in patients from Iran, where the consanguineous marriage is common. Data were collected from 30 patients (18 males and 12 females) with FXIII deficiency, from 26 unrelated families. Data of mutation analysis were obtained from 2 previously published studies. A total of 7 mutations consisting of 5 new mutations and 2 previously reported mutations were identified. Of the 5 novel missense mutations, 2, Arg77His and Trp187Arg, were the most common in Iranian FXIII-deficient patients. In regions like Iran with high rate of consanguineous marriages, the identification of common mutations in disease like severe FXIII deficiency increases the capacity to make a precise screening and diagnosis assays to screen and diagnose families with high risk of FXIII deficiency for prevention of clinical complications in them.

Original languageEnglish
Pages (from-to)100-103
Number of pages4
JournalClinical and Applied Thrombosis/Hemostasis
Volume18
Issue number1
DOIs
Publication statusPublished - Jan 2012

Keywords

  • FXIII deficiency
  • Iran
  • Mutation

ASJC Scopus subject areas

  • Hematology

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