Arg77His and Trp187Arg are the Most Common Mutations Causing FXIII Deficiency in Iran

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 fa...

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Bibliographic Details
Published in:Clinical and applied thrombosis/hemostasis 2012-01, Vol.18 (1), p.100-103
Main Authors: Eshghi, Peyman, Cohan, Nader, Lak, Manigeh, Naderi, Majid, Peyvandi, Flora, Menegatti, Marzia, Karimi, Mehran
Format: Article
Language:English
Subjects:
Amino Acid Substitution
Consanguinity
DNA Mutational Analysis
Factor XIII - genetics
Factor XIII Deficiency - epidemiology
Factor XIII Deficiency - genetics
Factor XIII Deficiency - prevention & control
Female
Genetic Testing
Humans
Iran - epidemiology
Male
Mutation
Mutation, Missense
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Summary: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.
ISSN:1076-0296
1938-2723
DOI:10.1177/1076029611412363