Factor V Leiden G1691A and prothrombin G20210A mutations among Palestinian patients with sickle cell disease

Fekri Samarah,Mahmoud A Srour

doi:10.1186/s12878-018-0097-0

Fekri Samarah, Mahmoud A Srour

Open Access

https://doi.org/10.1186/s12878-018-0097-0

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Abstract

BackgroundVascular thrombosis is an important pathophysiological aspect of sickle cell disease (SCD). This study aimed to investigate the prevalence and clinical impact of factor V Leiden G1691A (FVL) and prothrombin G20210A mutations among Palestinian sickle cell disease (SCD) patients.MethodsA total of 117 SCD patients, including 59 patients with sickle cell anemia (SS), 33 patients with sickle β-thalassemia and 25 individuals with sickle cell trait (AS) were studied. The control group consisted of 118 healthy individuals. FVL and prothrombin G20210A mutations were determined by RFLP PCR.ResultsAnalysis of the clinical history of SCD patients revealed that seven patients have had vascular complications such as ischemic stroke or deep vein thrombosis. In SCD patients, the inheritance of the FVL mutation showed a significantly higher incidence of pain in joints, chest and abdomen as well as regular dependence on blood transfusion compared to SCD with the wild type. Age- and sex-adjusted logistic regression analysis revealed a significant association between FVL and sickle cell anemia with an odds ratio (OR) of 5.6 (95% confidence intervals [CI] of 1.91–39.4, P = 0.039) in SS patients. However, increased prevalence of the FVL in AS subjects and sickle β-thalassemia patients was not statistically significant compared to controls (OR 3.97, 95% CI 0.51–28.6, P = 0.17 and OR 3.59, 95% CI 0.35–41.6, P = 0.26, respectively). The distribution of prothrombin G20210A mutation among SCD patients compared to controls was not significantly different, thus our findings do not support an association of this mutation with SCD.ConclusionsFVL was more prevalent among SS patients compared to controls and it was associated with higher incidence of disease complications among SCD patients.

Highlights

Vascular thrombosis is an important pathophysiological aspect of sickle cell disease (SCD)
The later three patients developed a thrombosis associated with central vein catheter; the diagnosis was based on clinical data
For chronic complications leg ulcers were present in nine patients (6 males, 3 females), all were with sickle cell anemia (SS)

Summary

Introduction

Vascular thrombosis is an important pathophysiological aspect of sickle cell disease (SCD). This study aimed to investigate the prevalence and clinical impact of factor V Leiden G1691A (FVL) and prothrombin G20210A mutations among Palestinian sickle cell disease (SCD) patients. Sickle cell disease (SCD) is an inherited disorder of β-globin gene and HbS was one of the first structural variants of hemoglobin to be discovered. A well-established genetic predisposition to venous thrombosis that occurs in approximately 5% of Caucasian populations is a single-point mutation in the gene encoding coagulation factor V (G1691A) or Factor V Leiden (FVL). The second most common risk factor for venous thrombosis is the prothrombin G20210A mutation which is specific for Caucasian populations (2%) [7]. The prothrombin G20210A mutation is associated with a higher plasma prothrombin levels and a three-fold greater risk of venous thrombosis

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