Fawaz Naglaa A, Bashawery Layla, Al-Sheikh Iman, Qatari Ahlam, Al-Othman Sara S, Almawi Wassim Y
Department of Hematology, King Faisal University, Dammam, Saudi Arabia.
Am J Hematol. 2004 Jul;76(3):307-9. doi: 10.1002/ajh.20087.
The prevalence of factor V Leiden, prothrombin G20210A, and MTHFR C677T mutations were investigated among 87 Saudi sickle cell disease (SCD) patients (38 males and 49 females) and 105 healthy controls (65 males and 40 females). The prevalences of factor V Leiden (P = 0.174) and PRT G20210A (P = 0.397) were not different between patients and controls, thereby giving no support to an association of either single-point mutation with SCD. However, an increased prevalence of the MTHFR 677 T/T genotype was seen among patients (8/87) compared to controls (4/105), but this was not statistically significant (P = 0.217; OR = 2.56). This suggested a low impact of inherited hypercoagulability risk factors in the pathogenesis of SCD and/or its complications.
在87名沙特镰状细胞病（SCD）患者（38名男性和49名女性）和105名健康对照者（65名男性和40名女性）中，研究了凝血因子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突变的发生率。患者和对照者之间凝血因子V莱顿突变（P = 0.174）和凝血酶原G20210A突变（P = 0.397）的发生率没有差异，因此不支持任何一种单点突变与SCD有关联。然而，与对照者（4/105）相比，患者（8/87）中MTHFR 677 T/T基因型的发生率有所增加，但这在统计学上并不显著（P = 0.217；比值比=2.56）。这表明遗传性高凝风险因素在SCD发病机制和/或其并发症中的影响较小。
