ArticleClinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis2018
Molecular Basis of Congenital Factor XIII Deficiency in Iran.
Article in Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 17 citations in OpenAlex.
- Thrombosis in rare bleeding disorders: a bleeding phenotype does not fully preclude thrombotic risk- frequency, clinical contexts, and management in a large Iranian cohort.Thrombosis journal · 2026Article
- Factor XIII deficiency in the Saudi population, an underestimated bleeding risk. Review article and an illustrative case report with dental complications.The Saudi dental journal · 2023Review
- Genetic Spectrum in F13A1 Detected by Next-Generation Sequencing Among North Indian Patients with FXIII Deficiency.Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion · 2023Article
- How to Assess Founder Effect in Patients with Congenital Factor XIII Deficiency.International journal of hematology-oncology and stem cell research · 2020Review
- State of the art in factor XIII laboratory assessment.Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for Haemapheresis · 2018Review
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Authors and funding
4 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Factor XIII deficiency (FXIIID) is an extremely rare autosomal recessive disorder that has the highest incidence in Iran. The FXIIID is primarily due to mutations in the FXIII-A gene, most of which are unique. In the current study, we report all identified mutations among Iranian patients. Among 483 patients, 366 (75.8%) were molecularly analyzed; 11 different mutations were observed. Of 11, 8 (72.7%) are missense, whereas the remaining 3 (27.3%) are deletion/insertion. Among these patients, 347 (94.9%) had the unique mutation of c.562T>C and 5 (1.4%) had the c.233G>A mutation. c.1226G>A, c.2111G>A, and c.1142T>A are also common, whereas other mutations, including 3 missense and 3 deletion/insertion, were observed only in single patient. Although, in most cases, FXIII mutations are unique and restricted to a specific family, this differs in Iran where a considerable number of identified mutations, recurrently observed, appear to be due to the high rate of consanguinity.
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Registered trials
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