Clinical manifestations and genetic mutation analysis of 20 patients with congenital Fibrinogen disorders
10.13303/j.cjbt.issn.1004-549x.2023.05.014
- VernacularTitle:20例先天性纤维蛋白原病患者临床表现和基因突变分析
- Author:
Wufuer GUZAILINUER
1
;
Aibaidula SIKANDEER
1
;
Qin HUANG
1
;
Tao LANG
1
;
Min MAO
1
Author Information
1. Department of Hematology, People′s Hospital of Xinjiang Uygur Autonomous Region, Urumqi 830000, China
- Publication Type:Journal Article
- Keywords:
congenital Fibrinogen disorder;
clinical manifestations;
laboratory examination characteristics;
genetic mutation
- From:
Chinese Journal of Blood Transfusion
2023;36(5):432-436
- CountryChina
- Language:Chinese
-
Abstract:
【Objective】 To retrospectively analyze the clinical manifestations, related laboratory examinations and gene mutation of 20 patients with congenital Fibrinogen disorders (CFD) admitted to our hospital from February 2017 to December 2021, so as to improve the understanding of CFD diagnosis. 【Methods】 Clinical characteristics and laboratory examination of 20 CFD patients were collected, and common secondary hypoFibrinemia factors were excluded. Gene sequencing was performed on all exons and flanks of FGA, FGB and FGG genes of 20 patients to find gene mutation sites. The peripheral blood genomic DNA was collected from the family members of two CFD patients, and the genes of the corresponding mutation sites of the proband were detected. 【Results】 The 20 CFD patients had no history of bleeding; 11 female patients had no history of spontaneous abortion; all 20 patients had reduced Fib and prolonged thrombin time (TT). There were 13 gene mutations of different types in 20 patients, among which 90% (18/20) were missense mutations, 5% (1/20) was deletion mutation, and 5% (1/20) was frameshift mutation. Seven patients (35%) had Arg35His mutation at site 104 of the FGA chain, among which 3 new gene mutations have not been reported in China. 【Conclusion】 Most CFD patients with mild or asymptomatic symptoms can be diagnosed by genetic testing and screening. FGA chain Arg35His is a mutation hotspot in this region, and all of them are Uyghur. Whether the mutation of this site is related to ethnicity needs to be confirmed by further studies.
