Eid Suhair S, Shubeilat Taisir
King Hussein Medical Center, Princess Iman Research Center for Laboratory Sciences, Amman, Jordan.
Blood Coagul Fibrinolysis. 2005 Sep;16(6):417-21. doi: 10.1097/01.mbc.0000175478.46831.52.
Venous thromboembolism develops as the result of multiple interactions between non-genetic and genetic risk factors. In order to estimate the frequency of factor V Leiden, prothrombin G20210A, and MTHFR C677T mutations in Jordanian thrombotic patients, we studied 594 patients admitted to the King Hussein Medical Center for thrombophilia assessment. Polymerase chain reaction detected 25.7% (20.7% heterozygous, 5% homozygous), 6% (5.8% heterozygous, 0.2% homozygous) and 31.7% (25% heterozygous, 6.7% homozygous) for factor V Leiden, prothrombin G20210A and MTHFR C677T mutations, respectively. A one-stage clotting assay was used to measure prothrombin activity. None of the prothrombin G20210A mutant patients had high prothrombin activity. The high prevalence found among our study group of factor V Leiden and prothrombin G20210A confirms the importance of thrombophilia screening for patients with venous thrombosis with family history and those with additional risk factors. On the contrary, the high prevalence of the MTHFR C677T mutation among arterial thrombosis patients shows its importance in screening in arterial thrombosis patients. These results, which are close to the prevalence found by other studies in the region, suggests that the Eastern Mediterranean region is probably the area of origin of these mutations, especially factor V Leiden. The knowledge of these frequencies in the Middle East region through population-based studies will contribute to a better understanding of the interaction between genetic and environmental risk factors underlying the mentioned mutations.
静脉血栓栓塞症是由非遗传和遗传风险因素之间的多种相互作用导致的。为了评估约旦血栓形成患者中因子V莱顿突变、凝血酶原G20210A突变和亚甲基四氢叶酸还原酶（MTHFR）C677T突变的频率，我们研究了594名因血栓形成倾向评估入住侯赛因国王医疗中心的患者。聚合酶链反应检测发现，因子V莱顿突变、凝血酶原G20210A突变和MTHFR C677T突变的发生率分别为25.7%（杂合子20.7%，纯合子5%）、6%（杂合子5.8%，纯合子0.2%）和31.7%（杂合子25%，纯合子6.7%）。采用一步凝血试验测量凝血酶原活性。凝血酶原G20210A突变患者均无高凝血酶原活性。在我们的研究组中发现因子V莱顿突变和凝血酶原G20210A突变的高发生率，证实了对有家族病史的静脉血栓形成患者和有其他风险因素的患者进行血栓形成倾向筛查的重要性。相反，动脉血栓形成患者中MTHFR C677T突变的高发生率表明其在动脉血栓形成患者筛查中的重要性。这些结果与该地区其他研究发现的发生率相近，表明东地中海地区可能是这些突变的起源地，尤其是因子V莱顿突变。通过基于人群的研究了解中东地区的这些频率，将有助于更好地理解上述突变背后的遗传和环境风险因素之间的相互作用。
