Global prevalence of prothrombin gene mutation G20210A and implications in women's health

Dziadosz, Margaret; Baxi, Laxmi

doi:10.1097/mbc.0000000000000562

Cited by 27 publications

(17 citation statements)

References 98 publications

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“…However these mutations show distinctive worldwide distribution. Both FVL and prothrombin G20210A mutations are prevalent among Caucasians and found to be rare among other populations, including Africans (27). Several studies have focused on the prevalence of FVL and prothrombin G20210A mutations in SCD patients to determine a (19).…”

Section: Discussionmentioning

confidence: 99%

Factor V Leiden and prothrombin G20210A mutations and risk of vaso-occlusive complications in sickle cell disease: A meta-analysis through the lens of nephrology

Bhaskar¹

2019

J Nephropharmacol

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Hemolysis is a fundamental feature that contributes to hypercoagulability and thrombotic complications in sickle cell disease (SCD). Factor V Leiden (FVL) and prothrombin G20210A mutations are the most common genetic thrombophilia. Objectives: The aim of this meta-analysis is to determine the relationship between FVL or prothrombin G20210A and susceptibility of vaso-occlusive complications (VOC) in SCD. Patients and Methods: For this meta-analysis, eligible studies were retrieved via two systematic searches performed on PubMed, Web of Science and Google Scholar databases. The keywords used in the former search included 'sickle cell anemia' , 'SCD' , 'Factor V Leiden' and 'G1691A (rs6025) mutation, the letter using the keywords 'sickle cell anemia' , 'SCD' , 'prothrombin, and 'G20210A (rs1799963). Results: The final number of studies included was 10 about SCD-VOC and FVL (total patients with VOC 1086 and without VOC 933), and 6 about SCD-VOC and prothrombin G20210A mutation (total patients with VOC 609 and without VOC 674). Meta-analysis in fixed effect model showed that mutant genotypes (GA+AA vs. GG) of the FVL mutation was found to be higher in SCD patients with VOC than in SCD patients without VOC (OR, 3.53; 95% CI, 2.24-5.08; P < 0.001). However, the distribution of prothrombin G20210A mutation in SCD patients with or without VOC is similar (OR, 0.900; 95% CI, 0.51-1.59; P = 0.717). Conclusion: Our meta-analysis establishes that the FVL mutation as a high-penetrant risk factor for VOC in SCD patients, whereas the prothrombin G20210A is not associated with the risk of VOC in SCD patients. To further validate the clinical utility of these prothrombotic mutations in SCD patient, large scale and prospective studies in diverse populations are warranted.

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Section: Discussionmentioning

confidence: 99%

Factor V Leiden and prothrombin G20210A mutations and risk of vaso-occlusive complications in sickle cell disease: A meta-analysis through the lens of nephrology

Bhaskar¹

2019

J Nephropharmacol

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“…In young women with no additional risk factors, the absolute risk of VTE due to heterozygous factor V Leiden is extremely low. The prevalence of prothrombin gene mutation ranges from 0 to 4.7% of asymptomatic individuals and demonstrates significant variation by region [62]. Deficiencies of protein C and S are found in <1% of asymptomatic individuals [63,64].…”

Section: Genetic Risk Factorsmentioning

confidence: 99%

Prevention of Venous Thromboembolism in 2020 and Beyond

Nicholson

Chan

Bhagirath

et al. 2020

JCM

128

109

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Venous thromboembolism (VTE) is the third most common cause of vascular mortality worldwide and comprises deep-vein thrombosis (DVT) and pulmonary embolism (PE). In this review, we discuss how an understanding of VTE epidemiology and the results of thromboprophylaxis trials have shaped the current approach to VTE prevention. We will discuss modern thromboprophylaxis as it pertains to genetic risk factors, exogenous hormonal therapies, pregnancy, surgery, medical hospitalization, cancer, and what is known thus far about VTE in COVID-19 infection.

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“…The carrier rate of FIIG20210A is about 3% of the general population. In a systematic review that looked at global prevalence of FII G20210, Dziadosz et al [11] found that it varies from one to another and has a carrier rate of 15.2% in some societies [12]. In children, it has been found that FII G20210A is associated with 30% of Central Nervous System (CNS) events and 67% of all arterial events [11].…”

Section: Discussionmentioning

confidence: 99%

“…In a systematic review that looked at global prevalence of FII G20210, Dziadosz et al [11] found that it varies from one to another and has a carrier rate of 15.2% in some societies [12]. In children, it has been found that FII G20210A is associated with 30% of Central Nervous System (CNS) events and 67% of all arterial events [11]. Unlike other causes of inherited thrombophilia, especially Factor V Leiden mutation, FII G20210A is associated more with arterial rather than venous thrombosis [13].…”

Section: Discussionmentioning

confidence: 99%

A Rare Case of Saudi Girl with Recurrent Strokes and Abnormal Multiple Thrombophilia

Alharbi¹

2018

J Blood Disord Transfus

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Recurrent multiple symptomatic strokes are infrequent in paediatric population. The causes for such events are usually cardiac, multiple inherited thrombophilia; such as Protein C, Protein S, Antithrombin III, and Antiphospholipid Syndrome, and other causes. We report a case of Saudi Girl who presented in December 12, 2017 with right sided Hemiparesis. Central Nervous System (CNS) imaging revealed left sided ischemic infarction. Investigations showed that in fact she has multiple inherited thrombophilia risk factors. She was found to have homozygous mutations in Prothrombin Gene Complex FII (G20210A), a mutation in the gene encoding Plasminogen Activator Inhibitor-1. Heterozygous mutations in 2 Methylene Tetrahydrofolate Reductase (MTHFR): c.677C>T and c.1298A > c. She was also found to have high Lipoprotein A levels (656 mg/L) which is also a known risk factor for arterial ischemia specifically. We concluded that having multiple inherited Thrombophilia mutations can result in increased risk of severe and symptomatic Ischemic infarctions in children.

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Global prevalence of prothrombin gene mutation G20210A and implications in women's health

Cited by 27 publications

References 98 publications

Factor V Leiden and prothrombin G20210A mutations and risk of vaso-occlusive complications in sickle cell disease: A meta-analysis through the lens of nephrology

Factor V Leiden and prothrombin G20210A mutations and risk of vaso-occlusive complications in sickle cell disease: A meta-analysis through the lens of nephrology

Prevention of Venous Thromboembolism in 2020 and Beyond

A Rare Case of Saudi Girl with Recurrent Strokes and Abnormal Multiple Thrombophilia

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