Impact of Prothrombotic Risk Factors in a Cohort of Egyptian Hemophilia A Patients

Molecular Diagnosis & Therapy
Mona Salah El-Din HamdyDalia Saber Morgan

Abstract

Hemophilias are a group of related bleeding disorders that show an X-linked pattern of inheritance. The clinical phenotype of severe hemophilia may vary markedly among patients as a result of many factors, including genetic prothrombotic risk factors. Our objective was to study the incidence of the most common prothrombotic risk factors for additive effects among Egyptian patients with hemophilia A and their impact on clinical phenotype; annual bleeding frequency and severity of hemophilic arthropathy, as well as the effect of a single variation in these patients. This study was carried out in 100 patients with hemophilia A. Genotyping for factor V Leiden (FVL) G1691A, prothrombin G20210A, MTHFR C677T, and A1298C mutations was conducted using a real time-polymerase chain reaction (RT-PCR) assay. Our study revealed mutations in hemophilia patients as follows: prothrombin G20210A (3 %), FVL (14 %), MTHFR C677T (42 %), and A1298C (59 %). Despite a lack of statistical significance when each gene was analysed separately, heterozygosity of prothrombin G20210A or FVL was always associated with either a mild or moderate, but never a severe, clinical presentation. The lowest bleeding frequency (less than once per month) was identified a...Continue Reading

References

Jan 3, 2001·Haemophilia : the Official Journal of the World Federation of Hemophilia·K GhoshD Mohanty
Sep 14, 2001·Haemophilia : the Official Journal of the World Federation of Hemophilia·K FischerH M van den Berg
Nov 2, 2002·Haemophilia : the Official Journal of the World Federation of Hemophilia·M GrünewaldM Griesshammer
Apr 8, 2003·Thrombosis Research·Rafeeq AhmedRenu Saxena
Jul 23, 2004·Thrombosis and Haemostasis·Massimo Franchini
Jul 23, 2004·Thrombosis and Haemostasis·Karin van DijkH Marijke van den Berg
Sep 1, 2005·Haemophilia : the Official Journal of the World Federation of Hemophilia·K van DijkH M van den Berg
Apr 1, 2006·Critical Reviews in Clinical Laboratory Sciences·Massimo FranchiniGiuseppe Lippi
Aug 1, 2007·Journal of Thrombosis and Haemostasis : JTH·H M van den BergK Fischer
Apr 1, 2008·Genetic Testing·Amira S SabbaghRami A R Mahfouz
Apr 9, 2008·Seminars in Thrombosis and Hemostasis·Giridhara Rao Jayandharan, Alok Srivastava
Jul 16, 2009·Haemophilia : the Official Journal of the World Federation of Hemophilia·J J López-JiménezA R Jaloma-Cruz
Dec 10, 2009·Journal of Thrombosis and Haemostasis : JTH·M FranchiniG Lippi
Dec 1, 2010·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Jody Lynn Kujovich
Jan 6, 2012·Mediterranean Journal of Hematology and Infectious Diseases·Mehrez M Jadaon
Dec 10, 2013·Hematology·Neil Josephson

❮ Previous
Next ❯

Citations

Feb 2, 2018·Therapeutic Advances in Hematology·Pauline Balkaransingh, Guy Young

❮ Previous
Next ❯

Related Concepts

Related Feeds

Blood Clotting Disorders

Thrombophilia includes conditions with increased tendency for excessive blood clotting. Blood clotting occurs when the body has insufficient amounts of specialized proteins that make blood clot and stop bleeding. Here is the latest research on blood clotting disorders.