Thrombophilic mutations among Southern Iranian patients with sickle cell disease: high prevalence of factor V Leiden

Rahimi, Zohreh; Vaisi‐Raygani, Asad; Nagel, Ronald L.; Muniz, A. V. C. da S.

doi:10.1007/s11239-007-0069-x

Cited by 21 publications

(17 citation statements)

References 15 publications

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“…DNA was extracted from the leukocyte fraction of the EDTA-treated whole blood by using Genomic DNA Purification Kit (Promega Corp., Madison, Wisconsin, USA). Genotyping of factor V Leiden G1691A, prothrombin G20210A and MTHFR C677T was carried out in accordance to the procedure published previously [19,20]. Briefly, PCR annealing temperatures were 598C for factor V Leiden G1691A mutation and 618C for both MTHFR C677T and prothrombin G20210A mutations.…”

Section: Methodsmentioning

confidence: 99%

The prevalence of factor V Leiden (G1691A), prothrombin G20210A and methylenetetrahydrofolate reductase C677T mutations in Jordanian patients with β-thalassemia major

Al‐Sweedan

Jaradat²,

Iraqi³

et al. 2009

Blood Coagulation &Amp; Fibrinolysis

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One hundred beta-thalassemia major (beta-TM) patients and 100 individuals as control were included. Factor V Leiden and prothrombin G20210A and methylenetetrahydrofolate reductase (MTHFR) gene mutations were genotyped by PCR and allele-specific restriction enzyme techniques. The prevalence of factor V Leiden G1691A, MTHFR C677T and prothrombin G20210A in patients was insignificantly higher than controls. Patients with beta-TM have insignificantly higher frequencies of mutant A allele in factor V Leiden G1691A (11.5 vs. 10.5%), mutant T allele in MTHFR C677T (21.5 vs. 21%) and mutant A allele in prothrombin G20210A (3 vs. 2.5%) than controls. Double heterozygosity for two of the three mutations discussed in this study was found in (10 vs. 8%, P = 0.62) in beta-TM patients and controls. The prevalence of factor V Leiden G1691A, prothrombin G20210A and MTHFR C677T mutations was slightly but insignificantly higher in beta-TM patients than controls. beta-TM is a chronic hypercoagulable condition independent of predisposing genetic factors.

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Section: Methodsmentioning

confidence: 99%

The prevalence of factor V Leiden (G1691A), prothrombin G20210A and methylenetetrahydrofolate reductase C677T mutations in Jordanian patients with β-thalassemia major

Al‐Sweedan

Jaradat²,

Iraqi³

et al. 2009

Blood Coagulation &Amp; Fibrinolysis

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“…Identification of factor V Leiden G1691A and prothrombin G20210A was according to the standard procedure as previously described [13].…”

Section: Methodsmentioning

confidence: 99%

Prevalence of thrombotic risk factors among β-thalassemia patients from Western Iran

Rahimi

Ghaderi

Nagel

et al. 2007

J Thromb Thrombolysis

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“…However, despite the moderate prevalence of Factor V Leiden (FVL) mutation (2.97-5.5%) among the general population of Iran 128 , the prevalence of FVL mutation is higher (14.3%) among Iranian SCD patients 129 with a significant association between this mutation and SCD (OR=6.5). Also, a study from Brazil suggests that MTHFR C677T might be a risk factor for vascular complications in SCD 123 .…”

Section: Genetic Predisposition For Thrombophilia In Sickle Cell Diseasementioning

confidence: 99%

Role of the Hemostatic System on Sickle Cell Disease Pathophysiology and Potential Therapeutics

Pakbaz

Wun

2014

Hematology/Oncology Clinics of North America

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SynopsisRecent studies suggest that sickle cell disease is a hypercoagulable state contributing to the vasoocclusive events in microcirculation resulting in acute and chronic sickle cell related organ damage. In this article, we will review the existing evidence for contribution of hemostatic system perturbation to sickle cell disease pathophysiology. We will also review the data showing increased risk of thromboembolic events, particularly newer information on the incidence of VTE. Finally, the potential role of platelet inhibitors and anticoagulants in SCD will be briefly reviewed.Keywords sickle cell; thromboembolism; hypercoagulable; anti-platelets; anticoagulants IntroductionSickle cell disease (SCD) is the result of homozygous or compound heterozygous inheritance of mutation in the β-globin gene. The resulting substitution of the hydrophilic amino acid glutamic acid at the sixth position by the hydrophobic amino acid valine, leads to the production of hemoglobin S (HbS). HbS polymerizes when deoxygenated and this polymerization is associated with cell dehydration and increased red cell density [1][2][3] . The dense, rigid and sickling red cells lead to vaso-occlusion and impaired blood flow 2,4 , and is thought to underlie acute (painful episodes, acute chest syndrome) and chronic (avascular necrosis, renal insufficiency) complications of the disease. Also, intracellular polymerization ultimately damages the red cell membrane and leads to chronic and episodic extra-vascular and intravascular hemolytic anemia, hemolysis linked nitric oxide (NO) dysregulation and endothelial dysfunction 5 resulting leg ulcer, pulmonary hypertension (PHTN), priapism and stroke 6 .Corresponding author: Ted Wun, MD. Authors contact information Address/Phone/Fax (for both authors): University of California, Davis Cancer Center, 4501 X St., Ste. 3016, Sacramento, CA 95817, Phone: (916) Fax: (916) 734-7946, zahra.pakbaz@ucdmc.ucdavis.edu, ted.wun@ucdmc.ucdavis.edu ZP has no conflict of interest.Publisher's Disclaimer: This is a PDF file of an unedited manuscript that has been accepted for publication. As a service to our customers we are providing this early version of the manuscript. The manuscript will undergo copyediting, typesetting, and review of the resulting proof before it is published in its final citable form. Please note that during the production process errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain. NIH Public Access NIH-PA Author ManuscriptNIH-PA Author Manuscript NIH-PA Author ManuscriptSeveral investigators have reported increased thromboembolic events and alteration in hemostatic system in SCD both under steady state and during acute events. This suggests that perturbation in hemostatic system may contribute to SCD pathophysiology. Changes that have been described include increased expression of tissue factor on blood monocytes 7-9 and endothelial cells 10,11 , abnormal exposure of phosphatidylserine on the red cell surface 12,13 and i...

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Thrombophilic mutations among Southern Iranian patients with sickle cell disease: high prevalence of factor V Leiden

Abstract: Our findings indicate a significant correlation between factor V Leiden and sickle cell anemia among Iranian patients. Association between venous thrombophilia and factor V Leiden mutation in Iranians with sickle cell anemia should be further studied.

Cited by 21 publications

References 15 publications

The prevalence of factor V Leiden (G1691A), prothrombin G20210A and methylenetetrahydrofolate reductase C677T mutations in Jordanian patients with β-thalassemia major

The prevalence of factor V Leiden (G1691A), prothrombin G20210A and methylenetetrahydrofolate reductase C677T mutations in Jordanian patients with β-thalassemia major

Prevalence of thrombotic risk factors among β-thalassemia patients from Western Iran

Role of the Hemostatic System on Sickle Cell Disease Pathophysiology and Potential Therapeutics

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