Abdalhabib E K, Alfeel A, Ali E I, Ibrahim I K, Mobarki A A, Dobie G, Hamali H A, Saboor M
Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, Al Qurayyat, Jouf University, Al-Jouf, Saudi Arabia.
Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences, Jazan University, Jazan, Saudi Arabia.
Balkan J Med Genet. 2022 Jun 5;24(2):49-54. doi: 10.2478/bjmg-2021-0018. eCollection 2021 Nov.
Venous thromboembolism (VTE) is one of the major causes of pregnancy-related mortality and morbidity. This study aimed to determine the frequency of factor V Leiden (FVL) and prothrombin G20210A polymorphisms and measure the plasma levels of protein C (PC), protein S (PS) and antithrombin (AT) in pregnant women with VTE and healthy pregnant women. This prospective case-control study determined the frequencies of FVL G1691A and prothrombin G20210A polymorphisms and measured the plasma levels of PC, PS and AT in 198 pregnant women with VTE and 198 healthy pregnant women. Allele-specific polymerase chain reaction (ASPCR) was used to detect the FVL G1691A polymorphisms and prothrombin G20210A gene mutations. The FVL G1691A polymorphism and prothrombin G20210A gene mutations were detected only in pregnant women with VTE, with frequencies of 4.0 and 0.5%, respectively. The highest frequency of FVL G1691A polymorphism was observed in patients with deep vein thrombosis (DVT) and positively associated with contraceptive use and termination. Pregnant women with VTE had significantly lower levels of PC, PS and AT than those of controls. In conclusion, among the VTE cases, FVL G1691A polymorphism and PC, PS and AT deficiencies were the most common findings in patients presenting with DVT. Antithrombin deficiency was more common than PC and PS deficiencies. Contraceptive use, high body mass index (BMI) and termination correlated strongly with FVL G1691A polymorphism and PC and PS deficiencies in patients with VTE.
静脉血栓栓塞症(VTE)是妊娠相关死亡和发病的主要原因之一。本研究旨在确定凝血因子V莱顿(FVL)和凝血酶原G20210A基因多态性的频率,并测量VTE孕妇和健康孕妇血浆中蛋白C(PC)、蛋白S(PS)和抗凝血酶(AT)的水平。这项前瞻性病例对照研究确定了198例VTE孕妇和198例健康孕妇中FVL G1691A和凝血酶原G20210A基因多态性的频率,并测量了PC、PS和AT的血浆水平。采用等位基因特异性聚合酶链反应(ASPCR)检测FVL G1691A基因多态性和凝血酶原G20210A基因突变。仅在VTE孕妇中检测到FVL G1691A基因多态性和凝血酶原G20210A基因突变,频率分别为4.0%和0.5%。FVL G1691A基因多态性在深静脉血栓形成(DVT)患者中频率最高,且与避孕药使用和终止妊娠呈正相关。VTE孕妇的PC、PS和AT水平显著低于对照组。总之,在VTE病例中,FVL G1691A基因多态性以及PC、PS和AT缺乏是DVT患者中最常见的发现。抗凝血酶缺乏比PC和PS缺乏更常见。避孕药使用、高体重指数(BMI)和终止妊娠与VTE患者的FVL G1691A基因多态性以及PC和PS缺乏密切相关。