Variant identification underlying inherited dysfibrinogenemia quite exceptionally fails. We report on two dysfibrinogenemia cases whose underlying DNA variant could not be identified by Sanger analysis. These failures result from two distinct mechanisms. The first case involved raw signal overcorrection by a built-in software, and the second constituted the first description of mosaicism for one of the fibrinogen genes. This mosaicism was subsequently identified by next-generation sequencing reanalysis of the sample.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10706790 | PMC |
| http://dx.doi.org/10.3390/ijms242316551 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Management and outcomes of women with low fibrinogen concentration during pregnancy or immediately postpartum: A UK national population-based cohort study.
Acta Obstet Gynecol Scand
July 2024
National Perinatal Epidemiology Unit, Nuffield Department of Population Health, University of Oxford, Oxford, UK.
Article Synopsis
- Pregnant women with fibrinogen levels below 2 g/L are at high risk for severe postpartum hemorrhage and related complications, yet the criteria for identifying those needing fibrinogen therapy are unclear.
- A UK study identified 124 cases of low fibrinogen in pregnant women, mainly linked to postpartum hemorrhage from events like placental abruption or trauma, with a low incidence of inherited conditions.
- The study found high maternal and perinatal mortality rates, including 27 stillbirths and two maternal deaths due to massive hemorrhage, indicating the seriousness of low fibrinogen levels in this population.*
[Not Available].
Haemophilia
April 2024
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Angelo Bianchi Bonomi Hemophilia and Thrombosis Center and Fondazione Luigi Villa, Milan, Italy.
Article Synopsis
- Rare bleeding disorders (RBDs) encompass inherited coagulation and vascular bleeding disorders, including fibrinogen and platelet function disorders, with challenges in management despite advancements in understanding their biology and diagnosis.
- Current treatments primarily focus on replacing a few coagulation factors and developing new therapeutic agents, but optimal strategies for specific conditions like severe IPFD and afibrinogenemia are still under debate.
- There is ongoing research into effective therapies for hereditary hemorrhagic telangiectasia (HHT) and a need to evaluate dosing, safety, and the impact of treatments on related conditions.
Management of pregnancy and delivery in congenital fibrinogen disorders: communication from the ISTH SSC Subcommittee on Factor XIII and Fibrinogen.
J Thromb Haemost
May 2024
Hemostasis and Thrombosis Center, Northwell Health, New Hyde Park, New York, USA.
Congenital fibrinogen disorders (CFDs) are a heterogeneous group of rare congenital quantitative and/or qualitative fibrinogen deficiencies. The spectrum of molecular anomalies is broad, leading to several subtypes of fibrinogen disorders (ie, afibrinogenemia, hypofibrinogenemia, dysfibrinogenemia, and hypodysfibrinogenemia). Pregnancy in women with CFDs is a high-risk clinical situation, with an increased tendency for miscarriages, bleeding, and thrombosis.
View Article and Find Full Text PDF[Phenotype and genotype analyses of two pedigrees with inherited fibrinogen deficiency].
Zhonghua Xue Ye Xue Za Zhi
November 2023
Department of Clinical Laboratory, Key Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou 325015, China.
To analyze the phenotype and genotype of two pedigrees with inherited fibrinogen (Fg) deficiency caused by two heterozygous mutations. We also preliminarily probed the molecular pathogenesis. The prothrombin time (PT), activated partial thromboplastin time (APTT), thrombin time (TT) and plasma fibrinogen activity (Fg∶C) of all family members (nine people across three generations and three people across two generations) were measured by the clotting method.
View Article and Find Full Text PDFInvestigation of acquired dysfibrinogenaemia in adult patients with sepsis using fibrinogen function vs. concentration ratios: a cross-sectional study.
Front Med (Lausanne)
December 2023
Department of Medicine, Hemostaseology, University Hospital, Goethe University Frankfurt, Frankfurt, Germany.
Introduction: Inherited or acquired molecular abnormalities form a clinically heterogeneous group of fibrinogen disorders called dysfibrinogenaemia. Apart from a pediatric case report and in contrast to other clinical conditions, acquired dysfibrinogenaemia has not been previously reported in septic patients.
Methods: In an observational cohort study, 79 adult septic patients were investigated for the presence of acquired dysfibrinogenaemia at the time of their admission to the intensive care unit (ICU) of the University Hospital Frankfurt.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!