Mutations in inherited fibrinogen disorders correlated with clinical features in the Chinese population
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Mutations in inherited fibrinogen disorders correlated with clinical features in the Chinese population Yafang Wan1 · Tian Li1 · Wei Zhang3 · Liying Wang1 · Yu Zhang1 · Pu Liao1 · Shiqiang Liu2 Accepted: 11 September 2020 © Springer Science+Business Media, LLC, part of Springer Nature 2020
Abstract Two probands with unknown reasons for low fibrinogen activity were considered to investigate the association between mutations in inherited fibrinogen disorders (IFDs) and clinical features in the Chinese population. A routine coagulation test was conducted on a Sysmex CS5100 coagulation analyzer, and Sanger sequencing was employed to analyze mutations. A PubMed database search through May 2020 was performed to identify relevant studies regarding the congenital fibrinogen disorder epidemic in China. A common heterozygous missense mutation (c.1233G > A p.Arg35His), a novel heterozygous mutation (c.2014T > C p.Trp672Arg), and a novel homozygous mutation (c.16A > G p.Ile6Val) in the FGA gene were identified in two probands with dysfibrinogenemia. The global coagulation screening assay can distinguish four types of IFD, especially a ratio of Fib:Ag/Fib:C equal to 1.5, which can distinguish patients with hypofibrinogenemia from those with hypodysfibrinogenemia. A total of 81 mutations from 76 probands in 45 IFD families have been reported in the Chinese population. Arg35 in FGA and Arg301 in FGG were responsible for IFD in more than half of patients in the Chinese population. It is possible to distinguish four types of IFD by using a global coagulation screening assay. Mutations in FGA, FGB and FGG occur in different functional regions, and Arg changes account for more than 70% of patients with IFD in the Chinese population, especially Arg-Cys, which may be associated with severe clinical symptoms. Keywords Inherited fibrinogen disorders · Mutation · Symptomatic · Classification
Highlights • Distinguishing four types of inherited fibrinogen dis-
Electronic supplementary material The online version of this article (https://doi.org/10.1007/s11239-020-02283-5) contains supplementary material, which is available to authorized users. * Pu Liao [email protected] * Shiqiang Liu [email protected] 1
Department of Clinical Laboratory, Chongqing General Hospital, Chongqing 400014, People’s Republic of China
2
Department of Cardiothoracic Surgery, Nanchong Central Hospital, Nanchong 637900, Sichuan, People’s Republic of China
3
Department of Clinical Laboratory, The Fourth People’s Hospital of Chongqing, Chongqing 400014, People’s Republic of China
orders can be achieved by using a global coagulation screening assay. • Mutations in FGA, FGB and FGG occur in different functional regions in the Chinese population. • Arg changes account for more than 70% of patients with inherited fibrinogen disorders in the Chinese population, especially Arg-Cys, which may be associated with severe clinical symptoms.
Introduction Inherited fibrinogen disorders (IFDs) are rare. Four types of IFD that affect the quantity of ci
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