424 results match your criteria Dysfibrinogenemia


c.259A>C in the fibrinogen gene of alpha chain () is a fibrinogen with thrombotic phenotype.

Appl Clin Genet 2019 28;12:27-33. Epub 2019 Feb 28.

Cancer Research Center, Wohl Institute of Translational Medicine, Sheba Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

Introduction: Dysfibrinogenemia is a rare inherited disease that results from mutation in one of the three fibrinogen genes. Diagnosis can be misleading since it may present as a bleeding tendency or thrombosis and a specific coagulation test for diagnosis is not routinely available.

Aim: To search for a new candidate gene of thrombophilia in a family with three generations of arterial and venous thrombosis. Read More

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http://dx.doi.org/10.2147/TACG.S190599DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6400116PMC
February 2019
1 Read

Whole-exome sequencing identified novel mutations in FGA and FGG genes in the patients with decreased fibrinogen.

Thromb Res 2019 May 5;177:79-82. Epub 2019 Mar 5.

Central Laboratory, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Chaoyang, Beijing 100026, China. Electronic address:

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http://dx.doi.org/10.1016/j.thromres.2019.03.002DOI Listing
May 2019
1 Read

Recurrent superficial venous thrombophlebitis because of mutations in the protein C and fibrinogen genes in a young Argentinian female.

Blood Coagul Fibrinolysis 2019 Mar;30(2):80-84

Laboratorio de Hematología, Sanatorio Allende.

: Hypodysfibrinogenemia and protein C deficiency are coagulopathies and in this report, we describe a young patient with both defects confirmed by molecular genetic tests. The patient was a 24-year-old woman referred for recurrent thrombophlebitis and finally deep venous thrombosis. Routine coagulation studies revealed mild decrease of protein C (0. Read More

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http://dx.doi.org/10.1097/MBC.0000000000000790DOI Listing
March 2019
8 Reads

Clot waveform analysis in Clauss fibrinogen assay contributes to classification of fibrinogen disorders.

Thromb Res 2019 02 18;174:98-103. Epub 2018 Dec 18.

Department of Transfusion Medicine, Nagoya University Hospital, Japan; Department of Laboratory Medicine, Nagoya University Hospital, Japan.

Background: Clauss fibrinogen assay (CFA) is widely used as a screening test to detect fibrinogen disorders. However, CFA alone cannot distinguish quantitative and qualitative defects because it depends on functional fibrinogen activity (Ac), and fibrinogen antigen (Ag) determination is required to classify fibrinogen disorders.

Objectives: To establish a novel approach to classify fibrinogen disorders, we investigated the potential of clot waveform analysis (CWA) of CFA and searched for a surrogate marker for fibrinogen Ag. Read More

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http://dx.doi.org/10.1016/j.thromres.2018.12.018DOI Listing
February 2019
4 Reads

[Mutation analysis of a FGG gene causing hereditary abnormal fibrinogen].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2018 Dec;35(6):812-814

Department of Clinical Laboratory, Dongyang People's Hospital, Dongyang, Zhejiang 322100, China.

Objective: To study the clinical phenotype and gene mutation analysis of a hereditary abnormal fibrinogenemia family and explore its molecular pathogenesis.

Methods: The STA-R automatic hemagglutination analyzer to detect the proband and its family members (3 generations of 5 people) of prothrombin time(PT), activated partial thromboplastin time (APTT), thrombin time (TT), fibrinogen activity (Fg: C), D-dimer (D-D), fibrinogen and fibrin degradation products (FDPs), plasminogen activity (PLG: A); The plasma levels of Fg: C and fibrinogen (Fg: Ag) were measured by Clauss method and immunoturbidimetry respectively. All exons and flanking sequences of FGA, FGB and FGG genes of fibrinogen were amplified by PCR, and the PCR products were purified and sequenced for gene analysis. Read More

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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2018.06.008DOI Listing
December 2018
20 Reads

Modified approach to fibrinogen replacement in the setting of dysfibrinogenaemia.

J Clin Pathol 2019 Feb 21;72(2):177-180. Epub 2018 Nov 21.

Department of Laboratory Medicine, Yale University School of Medicine, New Haven, Connecticut, USA.

Most fibrinogen replacement strategies focus on quantitative deficiencies. A thrombin time (TT) mixing study helped to assess qualitative defects caused by dysfibrinogens. Plasma samples were collected from non-anticoagulated subjects (n=6) meeting laboratory criteria for suspected dysfibrinogenaemia (TT > 22 s; fibrinogen activity <180) and from a control group. Read More

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http://dx.doi.org/10.1136/jclinpath-2018-205438DOI Listing
February 2019
10 Reads

Identification and characterization of novel mutations implicated in congenital fibrinogen disorders.

Res Pract Thromb Haemost 2018 Oct 2;2(4):800-811. Epub 2018 Jul 2.

Department of Pediatrics University of Colorado School of Medicine Aurora CO USA.

Introduction: Fibrinogen is a complex molecule comprised of two sets of Aα, Bβ, and γ chains. Fibrinogen deficiencies can lead to the development of bleeding or thromboembolic events. The objective of this study was to perform DNA sequence analysis of patients with clinical fibrinogen abnormalities, and to perform genotype-phenotype correlations. Read More

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http://doi.wiley.com/10.1002/rth2.12127
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http://dx.doi.org/10.1002/rth2.12127DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6178649PMC
October 2018
5 Reads

Mutational Epidemiology of Congenital Fibrinogen Disorders.

Thromb Haemost 2018 Nov 17;118(11):1867-1874. Epub 2018 Oct 17.

Department of Genetic Medicine and Development, Faculty of Medicine, University of Geneva, Geneva, Switzerland.

Background:  Numerous mutations in , or lead to congenital fibrinogen disorders (CFDs), but their epidemiology is not well characterized. The aim of this study was to evaluate the molecular epidemiology of CFD and to develop a genotyping strategy.

Methods:  Genetic data from 266 unrelated CFD patients genotyped at our laboratory and from a CFD open access database ( = 1,142) were evaluated. Read More

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http://www.thieme-connect.de/DOI/DOI?10.1055/s-0038-1673685
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http://dx.doi.org/10.1055/s-0038-1673685DOI Listing
November 2018
12 Reads

Fibrin monomers derived from thrombogenic dysfibrinogenemia, Naples-type variant (BβAla68Thr), showed almost entirely normal polymerization.

Thromb Res 2018 12 4;172:1-3. Epub 2018 Oct 4.

Department of Clinical Laboratory Investigation, Graduate School of Medicine, Shinshu University, Matsumoto, Japan.

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http://dx.doi.org/10.1016/j.thromres.2018.10.004DOI Listing
December 2018
6 Reads

Rare thrombophilic conditions.

Ann Transl Med 2018 Sep;6(17):342

Section of Clinical Biochemistry, University of Verona, Verona, Italy.

Thrombophilia, either acquired or inherited, can be defined as a predisposition to developing thromboembolic complications. Since the discovery of antithrombin deficiency in the 1965, many other conditions have been described so far, which have then allowed to currently detect an inherited or acquired predisposition in approximately 60-70% of patients with thromboembolic disorders. These prothrombotic risk factors mainly include qualitative or quantitative defects of endogenous coagulation factor inhibitors, increased concentration or function of clotting proteins, defects in the fibrinolytic system, impaired platelet function, and hyperhomocysteinemia. Read More

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http://dx.doi.org/10.21037/atm.2018.08.12DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6174195PMC
September 2018
9 Reads

Successful Pregnancy under Fibrinogen Substitution with Heparin and Aspirin in a Woman with Dysfibrinogenemia Revealed by Placental Abruption.

Thromb Haemost 2018 Nov 8;118(11):2006-2008. Epub 2018 Oct 8.

Department of Haematology, Nîmes University Hospital, University of Montpellier, Nîmes, France.

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http://dx.doi.org/10.1055/s-0038-1673615DOI Listing
November 2018
14 Reads

A novel fibrinogen variant in a Chinese pedigree with congenital dysfibrinogenemia caused by FGA P. Arg38Thr mutation: A case report.

Medicine (Baltimore) 2018 Oct;97(40):e12697

Department of Clinical Laboratory, Central Hospital of Taian.

Rationale: Congenital dysfibrinogenemia (CD) is characterized by altered functional properties of the fibrinogen; people who suffer from CD often have a low activity of fibrinogen and the mutation in the genomic DNA.

Patient Concerns: A 6-year-old child was examined with a low activity of fibrinogen measured by Von Clauss method and PT-derived method which indicated a normal level of fibrinogen; this abnormality was also detected in her mother. The genomic DNA of all the family members was extracted, and all exons of 3 fibrinogen genes which encode fibrinogen alpha chain (FGA), fibrinogen beta chain (FGB), and fibrinogen gamma chain (FGG) were amplified by polymerase chain reaction (PCR), in addition, sanger sequencing, homologous sequence alignment and bioinformatics software were performed for the further analysis. Read More

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http://Insights.ovid.com/crossref?an=00005792-201810050-0008
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http://dx.doi.org/10.1097/MD.0000000000012697DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6200480PMC
October 2018
6 Reads

Diagnosis and management of dysfibrinogenemia.

Authors:
Susan E Shapiro

Clin Adv Hematol Oncol 2018 Sep;16(9):602-605

Oxford Haemophilia and Thrombosis Centre, Oxford University Hospitals NHS Foundation Trust, NIHR Oxford Biomedical Research Centre, Oxford, United Kingdom.

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September 2018
3 Reads

Correction: .

Authors:

BMJ Case Rep 2018 08 29;2018. Epub 2018 Aug 29.

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http://dx.doi.org/10.1136/bcr-2017-221375corr1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6119366PMC
August 2018
2 Reads

Abnormal fibrinogen with an Aα 16Arg → Cys substitution is associated with multiple cerebral infarctions.

J Thromb Thrombolysis 2018 Oct;46(3):409-419

Department of Clinical Laboratory, the First Affiliated Hospital of Guangxi Medical University, Nanning, 530021, Guangxi, China.

We found a heterozygous dysfibrinogenemia caused by a substitution of AαArg16Cys. The proband suffered multiple cerebral infarctions. Routine coagulation tests revealed a prolonged thrombin time. Read More

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http://dx.doi.org/10.1007/s11239-018-1689-zDOI Listing
October 2018
13 Reads

Human Fibrinogen: Molecular and Genetic Aspects of Congenital Disorders.

Int J Mol Sci 2018 May 29;19(6). Epub 2018 May 29.

Medical Genetics, Department of Clinical and Experimental Medicine, University of Foggia, 71122 Foggia, Italy.

Congenital fibrinogen disorders can be quantitative (afibrinogenemia, hypofibrinogenemia) or functional (dysfibrinognemia). To date, several genetic variants have been identified in individuals with fibrinogen disorders. The complexity of the fibrinogen molecules, formed by three non-identical chains and with a trinodal organization, renders the identification of molecular causes and of clinical and biochemical phenotypes very challenging. Read More

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http://dx.doi.org/10.3390/ijms19061597DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6032319PMC
May 2018
29 Reads

Congenital dysfibrinogenaemia assessed by whole blood thromboelastography.

Int J Lab Hematol 2018 Aug 30;40(4):459-465. Epub 2018 Apr 30.

Department of Clinical Laboratory, The First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, China.

Introduction: Congenital dysfibrinogenaemia (CD) is a rare hereditary blood disorder, and thromboelastography (TEG) can comprehensively assess the clotting function of patients. However, only few studies have focussed on the application of TEG in CD. We aim to investigate the clinical value of TEG in congenital CD. Read More

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http://dx.doi.org/10.1111/ijlh.12827DOI Listing
August 2018
4 Reads

Clinical and molecular characterization of nine Chinese patients affected by hypofibrinogenemia or dysfibrinogenemia.

Blood Coagul Fibrinolysis 2018 Jun;29(4):404-409

Department of Clinical Laboratory, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, China.

: Congential fibrinogen deficiency is a rare bleeding disorder caused by various mutations in three fibrinogen genes. It can be subdivided into four categories: afibrinogenemia, hypofibrinogenemia, hypodysfibrinogenemia and dysfbrinogenemia. This study was to elucidate the molecular defects in nine unrelated Chinese patients with hypofibrinogenemia or dysfibrinogenemia. Read More

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http://dx.doi.org/10.1097/MBC.0000000000000699DOI Listing
June 2018
9 Reads

Fibrinogen as a Pleiotropic Protein Causing Human Diseases: The Mutational Burden of Aα, Bβ, and γ Chains.

Int J Mol Sci 2017 Dec 14;18(12). Epub 2017 Dec 14.

Department of Biomedical Sciences, Humanitas University, Via Rita Levi Montalcini 4, 20090 Pieve Emanuele, Milan, Italy.

Fibrinogen is a highly pleiotropic protein that is involved in the final step of the coagulation cascade, wound healing, inflammation, and angiogenesis. Heterozygous mutations in Aα, Bβ, or γ fibrinogen-chain genes (, , ) have been described as being responsible for fibrinogen deficiencies (hypofibrinogenemia, hypo-dysfibrinogenemia, dysfibrinogenemia) and for more rare conditions, such as fibrinogen storage disease and hereditary renal amyloidosis. Instead, biallelic mutations have been associated with afibrinogenemia/severe hypofibrinogenemia, i. Read More

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http://dx.doi.org/10.3390/ijms18122711DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5751312PMC
December 2017
17 Reads

Acute renal artery infarction secondary to dysfibrinogenemia.

BMJ Case Rep 2017 11 8;2017. Epub 2017 Nov 8.

Hematology-Oncology, Walter Reed National Military Medical Center, Bethesda, Maryland, USA.

Renal infarction is a rare occurrence accounting for 0.007% of patients seen in the emergency department for renal insufficiency or hypertension. Dysfibrinogenemia is also rare, and the combination of renal artery infarct in the setting of congenital dysfibrinogenemia has not been described in the literature. Read More

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http://dx.doi.org/10.1136/bcr-2017-221375DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5695362PMC
November 2017
22 Reads

Heterozygous FGA p.Asp473Ter (fibrinogen Nieuwegein) presenting as antepartum cerebral thrombosis.

Thromb Res 2018 03 28;163:185-189. Epub 2017 Oct 28.

Vrije Universiteit Brussel (VUB), Universitair Ziekenhuis Brussel (UZ Brussel), Department of Haematology, Laarbeeklaan 101, 1090 Brussels, Belgium.

Introduction: The propositus - a two-week-old boy - was transferred to our university hospital for investigation of increased head circumference and full fontanel. On ultrasound, thrombosis of the right internal cerebral vein and intraventricular haemorrhage was diagnosed, confirmed by MRI. Family history revealed a bleeding history in the mother. Read More

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http://dx.doi.org/10.1016/j.thromres.2017.10.020DOI Listing
March 2018
6 Reads

[Genetic Analysis of A Case of Congenital Dysfibrinogenemia Caused by Arg16His Mutation in Exon 2 of FGA].

Zhongguo Shi Yan Xue Ye Xue Za Zhi 2017 Oct;25(5):1514-1517

Department of Laboratoria Examination, The First Affiliated Hospitul of Nanchang University, Nanchang 330006, Jiangxi Province, China.

Objective: To analyze the phenotype and genotype of a family with congenital dysfibrinogenemia.

Methods: Assays of coagulation, including activated partial thromboplastin time(APTT), pro-thrombin time(PT)and thrombin time(TT) were carried out with Sysmex CA-7000 in the proband and his family members. The quality and quantity of fibrinogen in plasma were determined by Clauss and electrophoresis, respectively. Read More

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http://dx.doi.org/10.7534/j.issn.1009-2137.2017.05.041DOI Listing
October 2017
7 Reads

A Chinese family with congenital Dysfibrinogenemia carries a heterozygous missense mutation in FGA: Concerning the genetic abnormality and clinical treatment.

Pak J Med Sci 2017 Jul-Aug;33(4):968-972

Xinyou Zhang, M.D. Department of Hematology, The Second Medical College (Shenzhen People's Hospital), Jinan University, Shenzhen, Guangdong Province, P.R. China.

Objectives: Congenital dysfibrinogenemia is a rare hereditary disease characterized by normal antigen level but lower function level of fibrinogen. Patients with congenital dysfibrinogenemia usually present as bleeding and/or thrombotic events. In this study, we explored the genetic abnormality and clinical treatment of a Chinese family with dysfibrinogenemia. Read More

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http://dx.doi.org/10.12669/pjms.334.12828DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5648974PMC
October 2017
8 Reads

Management of dysfibrinogenemia in pregnancy: A case report.

J Clin Lab Anal 2018 Mar 26;32(3). Epub 2017 Sep 26.

Department of Clinical Laboratory, the First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, China.

Background: Dysfibrinogenemia is a rare coagulation disorder caused by mutations in the fibrinogen gene that results in abnormal fibrinogen function. Dysfibrinogenemia has a wide spectrum of clinical manifestations including asymptomatic(55%), hemorrhage (25%), and thrombosis (20%).

Methods: We reported a 30-year-old woman with 35 weeks gestation. Read More

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http://dx.doi.org/10.1002/jcla.22319DOI Listing
March 2018
11 Reads

Combined use of Clauss and prothrombin time-derived methods for determining fibrinogen concentrations: Screening for congenital dysfibrinogenemia.

J Clin Lab Anal 2018 May 18;32(4):e22322. Epub 2017 Sep 18.

Department of Clinical Laboratory, The First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, China.

Background: In this study, the significance of fibrinogen concentration assessed by a combination of Clauss and prothrombin time (PT)-derived methods for screening for congenital dysfibrinogenemia were investigated, and the screening efficiency of fibrinogen PT-derived/Clauss ratio on congenital dysfibrinogenemia was analyzed.

Methods: We compared fibrinogen concentrations determined by the Clauss, PT-derived, and enzyme-linked immunosorbent assay (ELISA) methods in 73 patients with congenital dysfibrinogenemia and 81 normal controls. Receiver operating characteristic (ROC) curves were utilized to evaluate the efficacy of fibrinogen PT-derived/Clauss ratio in screening for congenital dysfibrinogenemia. Read More

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http://dx.doi.org/10.1002/jcla.22322DOI Listing
May 2018
37 Reads

Treating a Patient of Dysfibrinogenemia with Acute Thromboembolism by Rivaroxaban and Cilostazol.

Indian J Hematol Blood Transfus 2017 Sep 21;33(3):431-433. Epub 2016 Nov 21.

Department of Cardiovascular Surgery, Baskent University Istanbul Hospital, Oymaci Sk, No:7, Altunizade, 34662 Istanbul, Turkey.

Congenital dysfibrinogenemia is a rare autosomal recessive bleeding disorder, which is characterized by the absence of functional fibrinogen. Patients may have bleeding and paradoxical arterial and venous thrombotic problems from early childhood. The optimal antithrombotic therapy in these patients hasn't been determined yet. Read More

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http://dx.doi.org/10.1007/s12288-016-0751-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5544642PMC
September 2017
28 Reads

Potential misdiagnosis of dysfibrinogenaemia: Data from multicentre studies amongst UK NEQAS and PRO-RBDD project laboratories.

Int J Lab Hematol 2017 Dec 2;39(6):653-662. Epub 2017 Aug 2.

Sheffield Haemophilia and Thrombosis Centre, Royal Hallamshire Hospital, Sheffield, UK.

Introduction: Mutations in fibrinogen (Fgn) genes, causing dysfibrinogenaemia, can result in either a bleeding or thrombophilic diathesis. Dysfibrinogenaemia is infrequently encountered in hospital laboratories, and the utility of different assays in the diagnosis of dysfibrinogenaemia has not previously been explored in a multicentre study. We describe here an exercise in which PRO-RBDD project (prospective data collection on patients with fibrinogen and Factor XIII deficiencies) centres, and UK NEQAS centres, performed investigations for dysfibrinogenaemia. Read More

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http://dx.doi.org/10.1111/ijlh.12721DOI Listing
December 2017
15 Reads

Fibrinogen deficiency in a dog - a case report.

BMC Vet Res 2017 Jun 19;13(1):183. Epub 2017 Jun 19.

Department of Clinical Sciences, ENVT, University of Toulouse, 31076, Toulouse, France.

Background: Among coagulation disorders, primary fibrinogen deficiency is very rare in dogs. It is divided into hypofibrinogenemia, afibrinogenemia and dysfibrinogenemia. Afibrinogenemia has been described in three dogs. Read More

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http://dx.doi.org/10.1186/s12917-017-1110-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5477273PMC
June 2017
14 Reads

Fibrinogen Mahdia: A congenitally abnormal fibrinogen characterized by defective fibrin polymerization.

Haemophilia 2017 Jul 8;23(4):e340-e347. Epub 2017 Jun 8.

Hematology Laboratory, Bechir Hamza Children's Hospital, Tunis, Tunisia.

Introduction: Congenital dysfibrinogenemia is a rare qualitative fibrinogen deficiency. Molecular defects that result in dysfibrinogenemia are usually caused by mutations which affect fibrinopeptide release, fibrin polymerization, fibrin cross-linking or fibrinolysis.

Aim: Here, we investigated the genetic basis of hypodysfibrinogenemia in two Tunisian siblings with major bleeding. Read More

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http://dx.doi.org/10.1111/hae.13268DOI Listing
July 2017
12 Reads

Liver Transplantation in a Patient with Acquired Dysfibrinogenemia Who Presented with Subdural Hematoma: A Case Report.

Turk J Haematol 2017 12 7;34(4):356-357. Epub 2016 Jun 7.

İstanbul Memorial Ataşehir Hospital, Liver Transplantation Unit, İstanbul, Turkey.

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http://dx.doi.org/10.4274/tjh.2017.0045DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5774367PMC
December 2017
11 Reads

Clinical conditions responsible for hyperviscosity and skin ulcers complications.

Clin Hemorheol Microcirc 2017 ;67(1):25-34

Dipartimento Biomedico di Medicina Interna eSpecialistica, Università di Palermo, Italy.

In this brief review, we have examined some clinical conditions that result to be associated to an altered hemorheological profile and at times accompanied by skin ulcers. This skin condition may be observed in patients with the following condtions, such as primary polycythemic hyperviscosity (polycythemia, thrombocytemia) treated with hydroxyurea, primary plasma hyperviscosity (multiple myeloma, cryoglobulinemia, cryofibrinogenemia, dysfibrinogenemia, and connective tissue diseases), primary sclerocythemic hyperviscosity (hereditary spherocytosis, thalassemia, and sickle cell disease). In addition, it may be present in patients with secondary hyperviscosity conditions such as diabetes mellitus, arterial hypertension, critical limb ischemia and chronic venous insufficiency. Read More

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http://dx.doi.org/10.3233/CH-160218DOI Listing
January 2018
34 Reads

Congenital dysfibrinogenemia in a Japanese family with fibrinogen Naples (BβAla68Thr) manifesting as superior sagittal sinus thrombosis.

Blood Coagul Fibrinolysis 2017 Oct;28(7):580-584

aDepartment of Pediatrics bDepartment of Neurosurgery cDepartment of Hematology and Internal medicine, Seirei-Mikatahara General Hospital, Hamamatsu, Shizuoka dDepartment of Biomedical Laboratory Sciences, School of Health Sciences, Shinshu University, Matsumoto, Nagano, Japan.

: Congenital dysfibrinogenemia refers to the presence of a dysfunctional fibrinogen molecule, typically because of mutations in the fibrinogen gene. About 20% of fibrinogen gene mutations are responsible for thrombosis. Here, we described the case of a 17-year-old Japanese boy, who had a sudden stroke because of superior sagittal sinus thrombosis associated with dysfibrinogenemia. Read More

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http://dx.doi.org/10.1097/MBC.0000000000000641DOI Listing
October 2017
25 Reads

A novel fibrinogen variant: dysfibrinogenemia associated with γAsp185Asn substitution.

J Thromb Thrombolysis 2017 Jul;44(1):139-144

Department of Hematology, The Affiliated Drum Tower Hospital of Medical School of Nanjing University, Nanjing, 210008, People's Republic of China.

To identify the pathogenesis of a Chinese woman diagnosed with dysfibrinogenemia. A patient from Nanjing presented with a low plasma concentration of fibrinogen and a normal level of antigen of fibrinogen. This abnormality was also detected in her son. Read More

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http://dx.doi.org/10.1007/s11239-017-1496-yDOI Listing
July 2017
19 Reads

Hypodysfibrinogenemia with a Heterozygous Mutation of γCys326Ser by the Novel Transversion of TGT to TCT in a Patient with Pulmonary Thromboembolism and Right Ventricular Thrombus.

Cardiology 2017;137(3):167-172. Epub 2017 Apr 19.

Division of Cardiology, Department of Medicine, Tokai University Hachioji Hospital, Tokyo, Japan.

We encountered a 45-year-old Japanese man who suffered from pulmonary thromboembolism and huge right ventricular thrombus after inferior vena cava (IVC) filter implantation without apparent thrombus in either the deep veins or inside the IVC filter. The biochemical data showed a discrepancy in the level of fibrinogen between the immunological and thrombin time methods, suggesting hypodysfibrinogenemia. The sequencing of the fibrinogen γ-chain gene (FGG) revealed a novel heterozygous missense mutation in exon 8 - a TGT to TCT transversion in codon 326 - resulting in an amino acid substitution of serine for cysteine (γCys326Ser). Read More

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http://dx.doi.org/10.1159/000457899DOI Listing
August 2018
17 Reads

Clinical disorders responsible for plasma hyperviscosity and skin complications.

Eur J Intern Med 2017 Jul 5;42:24-28. Epub 2017 Apr 5.

Dipartimento Biomedico di Medicina Interna e Specialistica, Università di Palermo, Italy.

In this brief review, we have examined some clinical disorders which are associated to an altered hemorheological profile and at times accompanied by skin ulcers. This skin condition may be, in fact, observed in patients with primary plasma hyperviscosity such as multiple myeloma, Waldenstrom macroglobulinemia, cryoglobulinemia, cryofibrinogenemia, dysfibrinogenemia and connective tissue diseases. It must be underlined that the altered hemorheological pattern is not the only responsible for this skin complication but, as it worsens the microcirculatory flow, it contributes to determine the occurrence of the skin ulcers. Read More

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http://dx.doi.org/10.1016/j.ejim.2017.04.001DOI Listing
July 2017
10 Reads

The amplitude of coagulation curves from thrombin time tests allows dysfibrinogenemia caused by the common mutation FGG-Arg301 to be distinguished from hypofibrinogenemia.

Int J Lab Hematol 2017 Jun 20;39(3):301-307. Epub 2017 Mar 20.

Center for Molecular and Vascular Biology, University of Leuven, Leuven, Belgium.

Introduction: Thrombin time (TT) tests are useful for diagnosing coagulation disorders involving abnormal fibrinogen but do not allow us to distinguish between qualitative and quantitative defects. However, with the widening availability of optical coagulation automates, more information about the coagulation process is becoming increasingly accessible.

Methods: In this study, we compared the coagulation curves of TT tests carried out with plasma from healthy donors with those from patients with acquired low Clauss fibrinogen levels or with dysfibrinogenemia caused by a heterozygous point mutation in the fibrinogen γ-chain that results in a p. Read More

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http://dx.doi.org/10.1111/ijlh.12625DOI Listing
June 2017
11 Reads

Genetics, diagnosis and clinical features of congenital hypodysfibrinogenemia: a systematic literature review and report of a novel mutation.

J Thromb Haemost 2017 05 6;15(5):876-888. Epub 2017 Mar 6.

Division of Angiology and Haemostasis, Faculty of Medicine, University Hospitals of Geneva, Geneva, Switzerland.

Essentials Hypodysfibrinogenemia is rarely reported among the congenital fibrinogen disorders. This first systematic literature review led to identification of 51 hypodysfibrinogenemic cases. Diagnosis based only on functional/antigenic fibrinogen ratio may be insufficient. Read More

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http://dx.doi.org/10.1111/jth.13655DOI Listing
May 2017
8 Reads

Dysfibrinogenemia and multiple sclerosis: spuriously associated or causally linked?

Hippokratia 2017 Jan-Mar;21(1):49-51

Pathology Department of Stony Brook University, Stony Brook, New York.

Background: The inherited dysfibrinogenemias comprise rare congenital coagulation disorders which are clinically characterized by bleeding diathesis and, in occasional patients, by thrombotic tendency or combined bleeding-thrombotic events. In recent years, accumulating evidence suggested that fibrinogen has a critical role in the pathogenesis of neuroinflammatory disorders, including multiple sclerosis. We describe the presentation and long-term follow-up of a patient with inherited dysfibrinogenemia and concomitant clinical and laboratory evidence of demyelinating disease. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5997019PMC
June 2018
5 Reads

Assessment of Selected ROTEM Parameters, Kinetics of Fibrinogen Polymerization and Plasmin Amidolytic Activity in Patients with Congenital Fibrinogen Defects.

Adv Clin Exp Med 2016 Nov-Dec;25(6):1255-1263

Department of Hemostasis, Medical University of Łódź, Poland.

Background: Congenital fibrinogen disorders (CFD) are rare fibrinogen deficiencies which may be quantitative or functional. The clinical course of hypofibrinogenemia (hypoFI) or dysfibrinogenemia (dysFI) is unpredictable and cannot be determined by the application of standard hemostasis tests.

Objectives: The main aim of this study was to assess ROTEM parameters in CFD patients. Read More

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http://dx.doi.org/10.17219/acem/65781DOI Listing
June 2017
9 Reads

Acquired Dysfibrinogenemia Caused by Autoantibody Inhibiting Fibrin Polymerization in a Patient with MELAS Syndrome and Bleeding Tendency.

Ann Clin Lab Sci 2016 Dec;46(6):696-700

Department of Laboratory Medicine, Seoul National University Hospital, Seoul, Korea

We present a case of acquired dysfibrinogenemia caused by an autoantibody that inhibited fibrin polymerization in a patient previously diagnosed with MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, stroke-like episodes). The patient showed prolonged PT, aPTT, and thrombin time. There was no factor deficiency but fibrinogen antigen and activity were decreased. Read More

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December 2016
19 Reads

A novel mutation in the fibrinogen Aα chain (Gly13Arg, fibrinogen Nanning) causes congenital dysfibrinogenemia associated with defective peptide A release.

Int J Hematol 2017 Apr 8;105(4):506-514. Epub 2016 Dec 8.

Department of Clinical Laboratory, The First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, China.

Dysfibrinogenemia is characterized by blood coagulation dysfunction induced by an abnormal molecular structure of fibrinogen. Here, we describe a new case. A 32-year-old female was suspected of having dysfibrinogenemia during routine laboratory screening, based on her decreased functional fibrinogen level, normal fibrinogen antigen level, and prolonged thrombin time. Read More

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http://dx.doi.org/10.1007/s12185-016-2157-1DOI Listing
April 2017
24 Reads

Genetic analyses of novel compound heterozygous hypodysfibrinogenemia, Tsukuba I: FGG c.1129+62_65 del AATA and FGG c.1299+4 del A.

Thromb Res 2016 Dec 5;148:111-117. Epub 2016 Nov 5.

Department of Health and Medical Sciences, Graduate School of Medicine, Shinshu University, Matsumoto, Japan. Electronic address:

Introduction: We found a novel hypodysfibrinogenemia designated Tsukuba I caused by compound heterozygous nucleotide deletions with FGG c.1129+62_65 del AATA and FGG c.1299+4 del A on different alleles. Read More

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http://dx.doi.org/10.1016/j.thromres.2016.11.002DOI Listing
December 2016
35 Reads

Acquired hypofibrinogenemia: current perspectives.

J Blood Med 2016 26;7:217-225. Epub 2016 Sep 26.

Department of Specialist Haemostasis, The Pathology Partnership, Addenbrooke's Hospital, Cambridge, UK.

Acquired hypofibrinogenemia is most frequently caused by hemodilution and consumption of clotting factors. The aggressive replacement of fibrinogen has become one of the core principles of modern management of massive hemorrhage. The best method for determining the patient's fibrinogen level remains controversial, and particularly in acquired dysfibrinogenemia, could have major therapeutic implications depending on which quantification method is chosen. Read More

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http://dx.doi.org/10.2147/JBM.S90693DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5045218PMC
September 2016
10 Reads

Three cases of congenital dysfibrinogenemia in unrelated Chinese families: heterozygous missense mutation in fibrinogen alpha chain Argl6His.

Medicine (Baltimore) 2016 Sep;95(39):e4864

aDepartment of Clinical Laboratory bDepartment of Hematology, the First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, China.

Congenital dysfibrinogenemia (CD) is a qualitative fibrinogen disorder caused by an abnormal fibrinogen molecule structure, leading to dysfunctional blood coagulation. This study describes 3 cases of dysfibrinogenemia identified in the unrelated Chinese pedigrees.Routine coagulation screening tests were performed on the probands and their families. Read More

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http://dx.doi.org/10.1097/MD.0000000000004864DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5265910PMC
September 2016
25 Reads

Molecular dynamics-based analyses of the structural instability and secondary structure of the fibrinogen gamma chain protein with the D356V mutation.

J Biomol Struct Dyn 2017 Sep 27;35(12):2714-2724. Epub 2016 Sep 27.

a Department of Integrative Biology, School of Biosciences and Technology , VIT University , Vellore , Tamil Nadu 632014 , India.

Mutations in the fibrinogen gamma chain (FGG) gene have been associated with various disorders, such as dysfibrinogenemia, thrombophilia, and hypofibrinogenemia. A literature survey showed that a residue exchange in fibrinogen Milano I from γ Asp to Val at position 330 impairs fibrin polymerization. The D356V (D330V) mutation located in the C-terminus was predicted to be highly deleterious and to affect the function of the protein. Read More

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http://dx.doi.org/10.1080/07391102.2016.1229634DOI Listing
September 2017
50 Reads

Dysfibrinogenemia-associated novel heterozygous mutation, Shanghai (FGA c.169_180+2 del), leads to N-terminal truncation of fibrinogen Aα chain and impairs fibrin polymerization.

J Clin Pathol 2017 Feb 23;70(2):145-153. Epub 2016 Aug 23.

Faculty of Medical Laboratory Science, Ruijin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.

Aims: A novel heterozygous variant, FGA c.169_180+2 del (designated fibrinogen Shanghai), was identified in a patient with dysfibrinogenemia with antiphospholipid antibody syndrome (APS) and recurrent venous thrombosis, and in his asymptomatic father. We aimed to reveal the functional implication of structural change caused by this variant. Read More

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http://dx.doi.org/10.1136/jclinpath-2016-203862DOI Listing
February 2017
16 Reads

Diagnosis of congenital fibrinogen disorders.

Ann Biol Clin (Paris) 2016 Aug;74(4):405-12

Service d'angiologie et d'hémostase, Hôpitaux universitaires de Genève, Faculté de médecine, Genève, Suisse.

Congenital fibrinogen disorders comprise quantitative disorders defined by a complete absence (afibrinogenemia) or by a decreased level (hypofibrinogenemia) of circulating fibrinogen and qualitative disorders characterized by a discrepancy between the activity and the antigenic levels of fibrinogen (dysfibrinogenemia and hypodysfibrinogenemia). The biological diagnosis is based on a standard haemostasis assessment. All the coagulation tests that depend on the formation of fibrin as the end point are affected; although in dysfibrinogenemia the specificity and sensitivity of routine test depend on reagent and techniques. Read More

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http://dx.doi.org/10.1684/abc.2016.1167DOI Listing
August 2016
8 Reads

Dysfibrinogenemia with Subgaleal Hematoma: An Unusual Presentation.

Indian J Hematol Blood Transfus 2016 Jun 26;32(Suppl 1):239-41. Epub 2015 Oct 26.

Department of Pathology, PGIMER, Dr RML Hospital, 3rd Floor OPD Building, New Delhi, 110001 India.

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http://dx.doi.org/10.1007/s12288-015-0606-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4925534PMC
June 2016
11 Reads
0.230 Impact Factor

Hypodysfibrinogenemia: A novel abnormal fibrinogen associated with bleeding and thrombotic complications.

Clin Chim Acta 2016 Sep 22;460:55-62. Epub 2016 Jun 22.

Hematology Laboratory, Bechir Hamza Children's Hospital, Tunis, Tunisia; Department of Clinical Biology A, Faculty of Pharmacy, Monastir, Tunisia.

Background: Congenital disorders of fibrinogen are rare diseases resulting in the complete absence (afibrinogenemia), reduced concentration (hypofibrinogenemia) or altered function of circulating fibrinogen (dysfibrinogenemia). A combination of two different fibrinogen abnormalities with a significant functional and secretion defect (hypodysfibrinogenemia) reported in Tunisian family members, was investigated in this study.

Methods: The coagulation-related tests, kinetics of fibrin polymerization and lysis and fibrinogen analysis using gel electrophoresis were performed in the family members to characterize fibrinogen abnormalities. Read More

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http://dx.doi.org/10.1016/j.cca.2016.06.024DOI Listing
September 2016
23 Reads

Exon skipping and aberrant signal peptide cleavage produce novel fibrinogen with an Aα chain lacking the first 42 residues.

Thromb Haemost 2016 08 9;116(3):581-5. Epub 2016 Jun 9.

Prof. Stephen Brennan, Molecular Pathology Laboratory, Canterbury Health Laboratories, PO Box 151, Christchurch 8011, New Zealand, Tel.: +64 3 364 0549, Fax: +64 3 364 0545, E-mail:

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http://dx.doi.org/10.1160/TH16-03-0197DOI Listing
August 2016
17 Reads