Figure 1 - available via license: Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International
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Clot waveform analysis in a healthy control. (A) Arrows indicate the first derivative (expressed as mAbs/s) and the second derivative (expressed as mAbs/s 2 ), respectively. Amplitude of each coagulation curve (delta, expressed as mAbs) is indicated by the double arrow. (B) Arrow indicates the threshold, and the X-axis is the reaction time. Intersection of the red line on the X-axis is the time needed to reach the threshold.
Source publication
Background:
Congenital hypofibrinogenemia is a rare bleeding disease that is classified as the quantitative deficient type. In the present study, investigated the relationship between the genotype and phenotype in a family with hypofibrinogenemia.
Methods:
The proband was aware of a predisposition to bleeding. Functional analysis was performed f...
Context in source publication
Context 1
... results were digitized in OriginPro 2019B (OriginLab Corporation, Northampton, Massachusetts, USA). We investigated the dynamics of the formation of fibrin for this family, including a record of the maximum velocity of clot formation (first derivative, expressed as mAbs/s), the maximum acceleration of clot formation (second derivative, expressed as mAbs/s 2 ), the amplitude of the coagulation curve (delta, expressed as mAbs) that is obtained from the difference between the maximum and the minimum absorbance points (10), and the time to reach the threshold, which is the algorithm used for the Clauss fibrinogen assay determination ( Figure 1). ...
Citations
... Moreover, an assessment of fiber filament diameter revealed that all patients exhibited thicker fiber filaments than the healthy control (Fig. 2C), while there was no significant difference among the three patients (Fig. S1B). The causes of fibrin abnormalities including impaired release of fibrin peptide A/B, impaired polymerization of fibrin monomers, or impaired XIIIa-mediated cross-linking [10]. Scanning electron microscopy observations of the fibrin from the proband suggested that the strength, structure, and stability of fibrin might be impaired. ...
Congenital fibrinogen disorders are a group of coagulation deficiencies caused by fibrinogen defects and are divided into four types, including afibrinogenemia, hypofibrinogenemia, dysfibrinogenemia, and hypodysfibrinogenemia. In this study, we collected a family with hypofibrinogenemia, and genetics analysis identify a novel pathogenic variants (c.668G > C, p.Arg223Thr) in the FGG gene. And electron microscope observation revealed significant changes in the ultrastructure of fibrin of the proband. Our research expands the phenotypic and genetic spectrum associated with the FGG gene, which would facilitate in genetic counselling and prenatal genetic diagnosis.
Supplementary Information
The online version contains supplementary material available at 10.1186/s41065-024-00313-3.
