RRML - Prothrombotic risk mutations and polymorphisms in patients with hemophilia A – a preliminary study
AMLR

ISSN online: 2284-5623

ISSN-L: 1841-6624

Rejection rate (2020): 75%

Română English


Journal Metrics

Impact Factor 0.493
Five Year Impact Factor 0.531
SNIP 0.373
JCI 0.17


Advanced search


Top 10 downloaded articles
- December 2022 -
 
Downregulation of hsa-miR-4328... 5
Normality assessment, few para... 4
Setting up an own laboratory p... 3
The relationship between matri... 2
New Para-Clinical Investigatio... 2
New high-throughput liquid chr... 2
General Principles of Haematop... 2
Genetic risk factors for throm... 2
The importance of the new prog... 2
Detection of chromosomal imbal... 2

Log in

Concept, Design & Programming
Dr. Adrian Man

   
 
Nr. 23(1)/2015 DOI:10.1515/rrlm-2015-0005
XML
TXT

Prothrombotic risk mutations and polymorphisms in patients with hemophilia A – a preliminary study

Estera Boeriu, Margit Şerban, Bruno Neuner, Smaranda Teodora Arghirescu, Hortensia Ioniţă, Cristina Emilia Ursu, Ladislau Ritli, Şerban Talpoş, Cristian Jinca, Jenel Marian Pătraşcu


Abstract:

Introduction. In search for explanations of the clinical heterogeneity in patients with haemophilia (PwH) with the same mutation or degree of factor VIII deficiency, the coexistence of single or associated prothrombotic risk mutations has been widely evaluated. Objective. The evaluation of the frequency of prothrombotic risk mutations and polymorphisms in PwH in comparison with the general population. Method. The study was performed on 113 consecutive PwH consisting of PCR technology aiming to detect: factor V Leiden - G 1691A (FVL) and prothrombin (PT) - G 20210 A mutations, methylentetrahydrofolat - reductase (MTHFR) and plasminogen activator inhibitor type 1 (PAI-1) polymorphisms. Results. Within the whole study group, 52.21% patients have been identified with associated prothrombotic risk mutations or polymorphisms, 40.70% with one and 7.08% without any such alterations. The global frequency was characterized by the predominance of PAI-1 polymorphism present in 82.29% and MTHFR in 52.21% of patients. Heterozygous variants of PT G20210A, FV G1691A, MTHFR and PAI-1 were found in 7.96%, 9.73%, 39.82% and 53.98% cases, respectively. According to the disease severity, in 89 patients with severe hemophilia, the following frequencies of polymorphisms were found: for MTHFR 52.80%, for FV G1691A 5.61%, for PT G20210A 8.99% and for PAI-1 polymorphism 79.77%. Conclusions. The frequency of FV, PT and PAI-1 genes alterations in our group of hemophilia patients is higher than in the normal population. Nevertheless, considering their uneven distribution in different ethnic groups and geographical regions, more studies on a larger age- and sex-matched patient population are needed.

Keywords: haemophilia A, prothrombotic risk mutations, polymorphism

Received: 10.9.2014
Accepted: 31.1.2015
Published: 3.3.2015

 
  PDF Download full text PDF
(543 KB)
     
 
How to cite
Boeriu E, Şerban M, Neuner B, Arghirescu ST, Ioniţă H, Ursu CE, et al. Prothrombotic risk mutations and polymorphisms in patients with hemophilia A – a preliminary study. Rev Romana Med Lab. 2015;23(1):87-95. DOI:10.1515/rrlm-2015-0005