Whole Blood Thromboelastometry by ROTEM and Thrombin Generation by Genesia According to the Genotype and Clinical Phenotype in Congenital Fibrinogen Disorders

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Szanto , T , Lassila , R , Lemponen , M , Lehtinen , E , Neerman-Arbez , M & Casini , A 2021 , ' Whole Blood Thromboelastometry by ROTEM and Thrombin Generation by Genesia According to the Genotype and Clinical Phenotype in Congenital Fibrinogen Disorders ' , International Journal of Molecular Sciences , vol. 22 , no. 5 , 2286 . https://doi.org/10.3390/ijms22052286

Title: Whole Blood Thromboelastometry by ROTEM and Thrombin Generation by Genesia According to the Genotype and Clinical Phenotype in Congenital Fibrinogen Disorders
Author: Szanto, Timea; Lassila, Riitta; Lemponen, Marja; Lehtinen, Elina; Neerman-Arbez, Marguerite; Casini, Alessandro
Contributor: University of Helsinki, HUSLAB
University of Helsinki, HUS Comprehensive Cancer Center
University of Helsinki, HUS Comprehensive Cancer Center
University of Helsinki, Hematologian yksikkö
Date: 2021-03
Number of pages: 13
Belongs to series: International Journal of Molecular Sciences
ISSN: 1422-0067
URI: http://hdl.handle.net/10138/329170
Abstract: The outcome of congenital fibrinogen defects (CFD) is often unpredictable. Standard coagulation assays fail to predict the clinical phenotype. We aimed to assess the pheno- and genotypic associations of thrombin generation (TG) and ROTEM in CFD. We measured fibrinogen (Fg) activity and antigen, prothrombin fragments F1+2, and TG by ST Genesia(R) with both Bleed- and ThromboScreen in 22 patients. ROTEM was available for 11 patients. All patients were genotyped for fibrinogen mutations. Ten patients were diagnosed with hypofibrinogenemia, nine with dysfibrinogenemia, and three with hypodysfibrinogenemia. Among the 17 mutations, eight were affecting the Fg gamma chain, four the Fg B beta chain, and five the Fg A alpha chain. No statistical difference according to the clinical phenotypes was observed among FGG and FGA mutations. Median F1+2 and TG levels were normal among the different groups. Fg levels correlated negatively with F1+2 and peak height, and positively with lag time and time to peak. The pheno- and genotypes of the patients did not associate with TG. FIBTEM by ROTEM detected hypofibrinogenemia. Our study suggests an inverse link between low fibrinogen activity levels and enhanced TG, which could modify the structure-function relationship of fibrin to support hemostasis.
Subject: congenital fibrinogen defects
thrombin generation by Genesia
ROTEM
1182 Biochemistry, cell and molecular biology
3111 Biomedicine
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