alexa Fibrinogen Maracaibo: Hypo-Dysfibrinogenemia Caused by a Heterozygous Mutation in the Gen that Encodes for the Fibrinogen Aα Chain (G.1194G>A: P.Gly13>Glu) with Diminished Thrombin Generation
ISSN: 2155-9864

Journal of Blood Disorders & Transfusion
Open Access

Like us on:
OMICS International organises 3000+ Global Conferenceseries Events every year across USA, Europe & Asia with support from 1000 more scientific Societies and Publishes 700+ Open Access Journals which contains over 50000 eminent personalities, reputed scientists as editorial board members.

Open Access Journals gaining more Readers and Citations

700 Journals and 15,000,000 Readers Each Journal is getting 25,000+ Readers

This Readership is 10 times more when compared to other Subscription Journals (Source: Google Analytics)

Research Article

Fibrinogen Maracaibo: Hypo-Dysfibrinogenemia Caused by a Heterozygous Mutation in the Gen that Encodes for the Fibrinogen Aα Chain (G.1194G>A: P.Gly13>Glu) with Diminished Thrombin Generation

Timori NH1 and Badlou BA2*

1 Blood Transfusion Research Center, High Institute for Research and Education in Transfusion Medicine, Tehran, Iran

2 BBAdvies and Research, Research and Development Department, Zeist, The Netherlands

*Corresponding Author:
Bahram Alamdary Badlou (CEO)
BBAdvies and Research
Research and Development Department
Comeniuslaan 15, Zeist, The Netherlands
Tel: +31302211328
E-mail: [email protected]

Received date: April 08, 2014; Accepte date:d May 26, 2014; Published date: June 05, 2014

Citation: Timori NH, Badlou BA (2014) The Effect of (Non-) Agitating Condition on Agonist Induced-Aggregation of the 48 hours-Stored Platelet Concentrates. J Blood Disord Transfus 5:219. doi: 10.4172/2155-9864.1000219

Copyright: © 2014 Timori NH, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

 

Abstract

Introduction: Hereditary fibrinogen abnormalities can be quantitative and/or qualitative. In hypofibrinogenemia and hypodysfibrinogenemia fibrinogen levels are below 150 mg/dL.

Objectives: The aim of the present work was to characterize the fibrinogen abnormalities in a family where the propositus (an asymptomatic four-year-old male) and his mother had prolonged thrombin time and low fibrinogen levels. Methods: Fibrinogen genes were sequenced. Preliminary studies were performed on fibrin (ogen) function and fibrin network characteristics. Fibrin formation kinetic was done in plasma and purified fibrinogen. Fibrin network porosity was measured and fibrin structure visualized by laser scanning confocal microscopy (LSCM). In addition, global haemostatic tests such as thrombin generation and thromboelastography were performed.

Results: DNA analysis revealed a heterozygous mutation in the fibrinogen gen that encoded for the Aα chain (FGA g.1194G>A: p.Gly13>Glu) in the propositus and his mother. In plasma and purified fibrinogen, the rate of patients´ fibrin formation was approximately two times slower compared to control. Propositus´ fibrin porosity was similar to control, but diminished in his mother (p<0.05). By LSCM patients’ clots morphology were similar to control. Thromboelastographic study was normal in both patients, and thrombin generation diminished in the propositus.

Conclusions: The mutation of fibrinogen at Aα Gly13>Glu impairs fibrin polymerization. The differences found in thrombin generation between the propositus and his mother highlights the utility of global assays for therapy individualization.

Keywords

Share This Page

Additional Info

Loading
Loading Please wait..
 
Peer Reviewed Journals
 
Make the best use of Scientific Research and information from our 700 + peer reviewed, Open Access Journals
International Conferences 2017-18
 
Meet Inspiring Speakers and Experts at our 3000+ Global Annual Meetings

Contact Us

Agri, Food, Aqua and Veterinary Science Journals

Dr. Krish

[email protected]

1-702-714-7001 Extn: 9040

Clinical and Biochemistry Journals

Datta A

[email protected]

1-702-714-7001Extn: 9037

Business & Management Journals

Ronald

[email protected]

1-702-714-7001Extn: 9042

Chemical Engineering and Chemistry Journals

Gabriel Shaw

[email protected]

1-702-714-7001 Extn: 9040

Earth & Environmental Sciences

Katie Wilson

[email protected]

1-702-714-7001Extn: 9042

Engineering Journals

James Franklin

[email protected]

1-702-714-7001Extn: 9042

General Science and Health care Journals

Andrea Jason

[email protected]

1-702-714-7001Extn: 9043

Genetics and Molecular Biology Journals

Anna Melissa

[email protected]

1-702-714-7001 Extn: 9006

Immunology & Microbiology Journals

David Gorantl

[email protected]

1-702-714-7001Extn: 9014

Informatics Journals

Stephanie Skinner

[email protected]

1-702-714-7001Extn: 9039

Material Sciences Journals

Rachle Green

[email protected]

1-702-714-7001Extn: 9039

Mathematics and Physics Journals

Jim Willison

[email protected]

1-702-714-7001 Extn: 9042

Medical Journals

Nimmi Anna

[email protected]

1-702-714-7001 Extn: 9038

Neuroscience & Psychology Journals

Nathan T

[email protected]

1-702-714-7001Extn: 9041

Pharmaceutical Sciences Journals

John Behannon

[email protected]

1-702-714-7001Extn: 9007

Social & Political Science Journals

Steve Harry

[email protected]

1-702-714-7001 Extn: 9042

 
© 2008-2017 OMICS International - Open Access Publisher. Best viewed in Mozilla Firefox | Google Chrome | Above IE 7.0 version
adwords