The relationship of a Prothrombin G20210A mutation or a factor V Leiden mutation and on-aspirin platelet (re-)activity

2020 ◽  
Vol 19 ◽  
pp. 127-130
Author(s):  
Jeske J.K. van Diemen ◽  
Jeske M. Bij de Weg ◽  
Arda Arduç ◽  
Olivier Veraart ◽  
David Mager ◽  
...  
Keyword(s):  
Factor V Leiden ◽  
Prothrombin G20210a ◽  
Factor V ◽  
Factor V Leiden Mutation ◽  
G20210a Mutation ◽  
Relationship Of ◽  
The Relationship

The Association Between Parameters of Erythrocytes Morphology and Thrombophilia-Related Mutations

2021 ◽  
Vol 16 ◽  
Author(s):  
Ozlem Oz ◽  
Ataman Gonel
Keyword(s):  
Factor V Leiden ◽  
Mthfr C677t ◽  
Prothrombin G20210a ◽  
Factor V ◽  
Cross Sectional ◽  
Factor V Leiden Mutation ◽  
Erythrocyte Morphology ◽  
Mthfr A1298c ◽  
G20210a Mutation ◽  
History Of

Background: Alterations in erythrocyte morphology parameters have been identified and associated with hematological disorders and other chronic and cardiovascular diseases. Erythrocytes are abundant in thrombus content. Their hemoglobin density and differences in the ratio of macrocytic and microcytic cells may be associated with hypercoagulopathy in those with a history of thrombosis. Objective: This cross-sectional study aimed to investigate the relationship between hemogram parameters and thrombophilia genetic parameters. Method: A total of 55 patients whose thrombophilia panel was reviewed due to the diagnosis of thrombosis were included in the study. %MIC, %MAC, %HPO, %HPR and all hemogram parameters were measured using Abbott Alinity HQ. Prothrombin G20210A, MTHFR C677T, MTHFR A1298C, Factor V Leiden G169A and PAI-1 4G/5G mutations were studied using Real Time-PCR. Results: The MTHFR C677T mutation was detected in 58.2% of the patients. The Factor V Leiden mutation was detected in 5.5% of the patients. The MTHFR A1298C mutation was detected in 58.2%, The PAI mutation was detected in 74.5%, and the Factor 13 mutation was detected in 29% of the patients. Prothrombin G20210A mutation was not detected in any of the patients. Red blood cell (RBC) and Hct values were higher in Factor 13 mutant group; the Hgb and Htc values were higher in the MTHFR C677T mutant group. Conclusion: The MTHFR C677T and Factor 13 mutations may be associated with high Hct and RBC, Hgb, and Htc values, respectively and coagulation tendency in patients with a history of thrombosis.

Thrombotic risk during oral contraceptive use and pregnancy in women with factor V Leiden or prothrombin mutation: a rational approach to contraception

Blood ◽  
2011 ◽  
Vol 118 (8) ◽  
pp. 2055-2061 ◽  
Author(s):  
Elizabeth F. W. van Vlijmen ◽  
Nic J. G. M. Veeger ◽  
Saskia Middeldorp ◽  
Karly Hamulyák ◽  
Martin H. Prins ◽  
...  
Keyword(s):  
Risk Factors ◽  
Oral Contraceptive ◽  
Factor V Leiden ◽  
Informed Choice ◽  
Rational Approach ◽  
Prothrombin G20210a ◽  
Factor V ◽  
Factor V Leiden Mutation ◽  
Thrombotic Risk ◽  
G20210a Mutation

AbstractCurrent guidelines discourage combined oral contraceptive (COC) use in women with hereditary thrombophilic defects. However, qualifying all hereditary thrombophilic defects as similarly strong risk factors might be questioned. Recent studies indicate the risk of venous thromboembolism (VTE) of a factor V Leiden mutation as considerably lower than a deficiency of protein C, protein S, or antithrombin. In a retrospective family cohort, the VTE risk during COC use and pregnancy (including postpartum) was assessed in 798 female relatives with or without a heterozygous, double heterozygous, or homozygous factor V Leiden or prothrombin G20210A mutation. Overall, absolute VTE risk in women with no, single, or combined defects was 0.13 (95% confidence interval 0.08-0.21), 0.35 (0.22-0.53), and 0.94 (0.47-1.67) per 100 person-years, while these were 0.19 (0.07-0.41), 0.49 (0.18-1.07), and 0.86 (0.10-3.11) during COC use, and 0.73 (0.30-1.51), 1.97 (0.94-3.63), and 7.65 (3.08-15.76) during pregnancy. COC use and pregnancy were independent risk factors for VTE, with highest risk during pregnancy postpartum, as demonstrated by adjusted hazard ratios of 16.0 (8.0-32.2) versus 2.2 (1.1-4.0) during COC use. Rather than strictly contraindicating COC use, we advocate that detailed counseling on all contraceptive options, including COCs, addressing the associated risks of both VTE and unintended pregnancy, enabling these women to make an informed choice.

scholarly journals The Relationship of the Factor V Leiden Mutation and Pregnancy Outcomes for Mother and Fetus

2006 ◽  
Vol 61 (2) ◽  
pp. 78-79
Author(s):  
Donna Dizon-Townson ◽  
Connie Miller ◽  
Baha Sibai ◽  
Catherine Y. Spong ◽  
Elizabeth Thom ◽  
...  
Keyword(s):  
Pregnancy Outcomes ◽  
Factor V Leiden ◽  
Factor V ◽  
Factor V Leiden Mutation ◽  
Relationship Of ◽  
The Relationship

Thrombotic risk factors in Chinese Budd-Chiari syndrome patients

2013 ◽  
Vol 109 (05) ◽  
pp. 878-884 ◽  
Author(s):  
Chuangye He ◽  
Zhanxin Yin ◽  
Jing Niu ◽  
Ming Bai ◽  
Zhiping Yang ◽  
...  
Keyword(s):  
Risk Factors ◽  
Myeloproliferative Neoplasms ◽  
Factor V Leiden ◽  
Jak2 V617f ◽  
Paroxysmal Nocturnal Haemoglobinuria ◽  
Prothrombin G20210a ◽  
Factor V ◽  
Factor V Leiden Mutation ◽  
Thrombotic Risk ◽  
G20210a Mutation

SummaryIn Western countries, thrombotic risk factors for Budd-Chiari syndrome (BCS) are very common, including factor V Leiden mutation, prothrombin G20210A mutation, myeloproliferative neoplasms, paroxysmal nocturnal haemoglobinuria, etc. However, the data regarding thrombotic risk factors in Chinese BCS patients are extremely limited. An observational study was conducted to examine this issue. A total of 246 BCS patients who were consecutively admitted to our department between July 1999 and December 2011 were invited to be examined for thrombotic risk factors. Of these, 169 patients were enrolled. Neither factor V Leiden mutation nor prothrombin G20210A mutation was found in any of 136 patients tested. JAK2 V617F mutation was positive in four of 169 patients tested. Neither MPL W515L/K mutation nor JAK2 exon 12 mutation was found in any of 135 patients tested. Overt myeloproliferative neoplasms were diagnosed in five patients (polycythemia vera, n=3; essential thrombocythemia, n=1; idiopathic myelofibrosis, n=1). Two of them had positive JAK2 V617F mutation. Both CD55 and CD59 deficiencies were found in one of 166 patients tested. This patient had a previous history of paroxysmal nocturnal haemoglobinuria before BCS. Anticardiolipin IgG antibodies were positive or weakly positive in six of 166 patients tested. Hyperhomocysteinaemia was found in 64 of 128 patients tested. 5,10-methylenetetrahydrofolate reductase C677T mutation was found in 96 of 135 patients tested. In conclusion, factor V Leiden mutation, prothrombin G20210A mutation, myeloproliferative neoplasms, and paroxysmal nocturnal haemoglobinuria are very rare in Chinese BCS patients, suggesting that the etiological distribution of BCS might be different between Western countries and China.

Hereditary and acquired thrombophilia in patients with upper extremity deep-vein thrombosis

2008 ◽  
Vol 100 (09) ◽  
pp. 440-446 ◽  
Author(s):  
Florian Meister ◽  
Jan Schwonberg ◽  
Marc Schindewolf ◽  
Dimitrios Zgouras ◽  
Edelgard Lindhoff-Last ◽  
...  
Keyword(s):  
Deep Vein Thrombosis ◽  
Upper Extremity ◽  
Factor V Leiden ◽  
Common Finding ◽  
Prothrombin G20210a ◽  
Factor V ◽  
Factor V Leiden Mutation ◽  
Vein Thrombosis ◽  
G20210a Mutation ◽  
Deep Vein

SummaryThe prevalence of coagulation disorders in patients with upper extremity deep-vein thrombosis (UE-DVT) is unknown due to only a few observational studies of limited size reporting varying results. Therefore, we aimed to evaluate the prevalence of thrombophilia in patients with UE-DVT compared to patients with lower extremity deep vein thrombosis (LE-DVT). One hundred fifty consecutive patients (15 to 91 years of age) with UE-DVT were recruited from the MAISTHRO (MAin-ISar-THROmbosis) registry. Three hundred LE-DVT patients matched for gender and age served as controls. Thrombophilia screening included tests for the factor V Leiden mutation, the prothrombin G20210A mutation, antiphospholipid antibodies and factor VIII (FVIII), protein C, protein S and antithrombin activities. At least one thrombophilia was present in 34.2% of UE-DVT and 39.2% in UE-DVT that was unrelated to venous catheters relative to 55.3% in LE-DVT patients (p<0.001). In particular, a persistently elevated FVIII is less likely to be found in UE-DVT patients than in those with LE-DVT and is the only thrombophilia that is differentially expressed after controlling for established VTE risk factors [OR 0.46, (95% CI 0.25–0.83)]. Although less prevalent than in LE-DVT patients, thrombophilia is a common finding in patients with UE-DVT, especially in those with thrombosis that is unrelated to venous catheters.

scholarly journals The Relationship of the Factor V Leiden Mutation and Pregnancy Outcomes for Mother and Fetus

2005 ◽  
Vol 106 (3) ◽  
pp. 517-524 ◽  
Author(s):  
Donna Dizon-Townson ◽  
Connie Miller ◽  
Baha Sibai ◽  
Catherine Y. Spong ◽  
Elizabeth Thom ◽  
...  
Keyword(s):  
Pregnancy Outcomes ◽  
Factor V Leiden ◽  
Factor V ◽  
Factor V Leiden Mutation ◽  
Relationship Of ◽  
The Relationship

Prophylactic Therapy with Enoxaparin in Children with Acute Lymphoblastic Leukemia and Inherited Thrombophilia During L-Asparaginase Treatment.

Blood ◽  
2009 ◽  
Vol 114 (22) ◽  
pp. 4120-4120
Author(s):  
Dan Harlev ◽  
Irina Zaidman ◽  
Galit Sarig ◽  
Myriam Ben Arush ◽  
Benjamin Brenner ◽  
...  
Keyword(s):  
Acute Lymphoblastic Leukemia ◽  
Lymphoblastic Leukemia ◽  
Factor V Leiden ◽  
Prothrombin G20210a ◽  
Factor V ◽  
Factor V Leiden Mutation ◽  
Inherited Thrombophilia ◽  
G20210a Mutation ◽  
Number Of Patients ◽  
Prothrombin Mutation

Abstract Abstract 4120 Thrombotic events (TE) are well documented in patients with acute lymphoblastic leukemia (ALL) receiving L-asparaginase in combination with vincristine, prednisone and anthracyclines. They occur due to a combination of disease, host and treatment-related risk factors. Low molecular weight heparin (LMWH) is widely used for the prevention of thrombosis in a variety of diseases. Its advantages are prolonged half-life and the low rate of induced thrombocytopenia. To date, there is a debate as to whether or not to give prophylactic treatment for TE using low-dose warfarin or LMWH in children with ALL receiving a combination of L-asparaginase and steroids. In a previous study done by us LMWH was given to all children with ALL during L-asparaginase treatment. In the current study presented herein it was decided to give prophylactic LMWH during L-asparaginase treatment only to patients with ALL and genetic thrombophilia. Eighty-seven consecutive children with acute onset of ALL treated at Rambam Medical Center between the years 1999 and 2008 were included. Eighty patients were above the age of 1 year and were treated according to the Israeli version of the BFM protocols 1998 and 2002, while seven patients with infant leukemia were treated according to the Interfant-99 protocol. Median age at diagnosis was 4.9 years (range: 0.1-16 years). There were 56 boys and 31 girls. Forty-five patients were Arabic (including Druze), 41 were Jewish and one was Bahai. Genetic analysis of factor V Leiden (G1691A) and prothrombin (G20210A) mutations were done at diagnosis. LMWH was given once daily subcutaneously at a dose of 1 mg/kg starting with the first dose of L-asparaginase (day 12 during induction, day 8 during consolidation) until one week after the last dose (day 40 during induction, day 25 during consolidation) to patients with inherited thrombophilia; either factor V Leiden or prothrombin mutation. Twenty (22.9%) patients were found to have a genetic predisposition for TE. Six (6.9%) patients were heterozygous for prothrombin G20210A mutation, while 14 (16%) patients were heterozygous for factor V Leiden mutation. Seven of the 87 (8%) patients developed eight thromboembolic events. Three of these seven were heterozygous for prothrombin mutation and received prophylactic LMWH. The other 4 patients had no genetic thrombophilia and did not receive LMWH. No TE event occurred in patients with factor V Leiden mutation receiving prophylactic LMWH (Table 1). No bleeding occurred during treatment with LMWH. It is suggested that prophylactic use of LMWH for prevention of TE events during L-asparaginase treatment is more beneficial to patients harboring factor V Leiden mutation than for those who have prothrombin mutation. A randomized trial of LMWH should be performed in children with ALL during L-asparaginase and steroids treatment, in order to properly asses its safety and efficacy in preventing TE. Table 1 Number of patients (%) LMWH treatment TE episodes Total number of patients ➞ 7 patients No genetic thrombophilia 67 (77) no 4 Genetic thrombophilia 20 (23) Factor II G20210A 6 Yes 3     Homozygous     Heterozygous 0 Factor V Leiden     Homozygous 14 Yes (in 12 patients) 0     Heterozygous 0 14 Disclosures: Brenner: sanopi-aventis: Membership on an entity's Board of Directors or advisory committees, Speakers Bureau.

The Prothrombin G20210A Mutation and Factor V Leiden Mutation in Patients With Cerebrovascular Disease

Blood ◽  
1998 ◽  
Vol 92 (2) ◽  
pp. 704-705
Author(s):  
Wolfgang Lalouschek ◽  
Susanne Aull ◽  
Wolfgang Series ◽  
Karl Zeiler ◽  
Christine Mannhalter
Keyword(s):  
Cerebrovascular Disease ◽  
Factor V Leiden ◽  
Prothrombin G20210a ◽  
Factor V ◽  
Factor V Leiden Mutation ◽  
G20210a Mutation
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